SLMAP (sarcolemma associated protein) - Rat Genome Database

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Gene: SLMAP (sarcolemma associated protein) Homo sapiens
Analyze
Symbol: SLMAP
Name: sarcolemma associated protein
RGD ID: 1317000
HGNC Page HGNC:16643
Description: Enables protein-macromolecule adaptor activity and small GTPase binding activity. Involved in several processes, including negative regulation of hippo signaling; regulation of membrane depolarization during cardiac muscle cell action potential; and regulation of voltage-gated sodium channel activity. Part of FAR/SIN/STRIPAK complex. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ42206; KIAA1601; MGC138760; MGC138761; sarcolemmal membrane-associated protein; Sarcolemmal-associated protein; SLAP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,756,309 - 57,930,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,755,450 - 57,930,003 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,742,036 - 57,915,740 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,718,214 - 57,889,934 (+)NCBINCBI36Build 36hg18NCBI36
Build 34357,718,213 - 57,889,934NCBI
Celera357,757,094 - 57,928,809 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,840,319 - 58,012,336 (+)NCBIHuRef
CHM1_1357,693,425 - 57,865,092 (+)NCBICHM1_1
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9405447   PMID:10986292   PMID:10997877   PMID:11042152   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15086317   PMID:15489334   PMID:15591093   PMID:16344560   PMID:17081983  
PMID:17353931   PMID:18029348   PMID:18782753   PMID:19156129   PMID:19615732   PMID:20301690   PMID:21873635   PMID:23064965   PMID:23251661   PMID:23277359   PMID:23386615   PMID:23414517  
PMID:23455922   PMID:24255178   PMID:24366813   PMID:25416956   PMID:25609649   PMID:25880194   PMID:26186194   PMID:26344197   PMID:26472760   PMID:26496610   PMID:28330616   PMID:28514442  
PMID:28986522   PMID:29063833   PMID:29778605   PMID:30021884   PMID:30622739   PMID:31091453   PMID:31871319   PMID:32572027   PMID:32614325   PMID:32640226   PMID:32707033   PMID:32877691  
PMID:33111431   PMID:33417871   PMID:33571521   PMID:33853758   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34831298   PMID:35271311   PMID:36215168   PMID:36398662  
PMID:36526897   PMID:37071682   PMID:37536630   PMID:37774976   PMID:37931956  


Genomics

Comparative Map Data
SLMAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,756,309 - 57,930,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,755,450 - 57,930,003 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,742,036 - 57,915,740 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,718,214 - 57,889,934 (+)NCBINCBI36Build 36hg18NCBI36
Build 34357,718,213 - 57,889,934NCBI
Celera357,757,094 - 57,928,809 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,840,319 - 58,012,336 (+)NCBIHuRef
CHM1_1357,693,425 - 57,865,092 (+)NCBICHM1_1
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBIT2T-CHM13v2.0
Slmap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391426,134,323 - 26,256,103 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1426,134,323 - 26,256,086 (-)EnsemblGRCm39 Ensembl
GRCm381426,413,168 - 26,534,624 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1426,413,168 - 26,534,931 (-)EnsemblGRCm38mm10GRCm38
MGSCv371427,232,661 - 27,353,226 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361425,246,359 - 25,366,924 (-)NCBIMGSCv36mm8
Celera1422,656,214 - 22,777,124 (-)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1416.09NCBI
Slmap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8161,673,964 - 1,791,902 (-)NCBIGRCr8
mRatBN7.2161,667,205 - 1,785,200 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl161,667,208 - 1,785,149 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx161,675,270 - 1,791,777 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0162,821,093 - 2,937,472 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0161,681,843 - 1,798,227 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0162,112,271 - 2,227,336 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl162,112,274 - 2,227,309 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0162,087,744 - 2,201,812 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4161,707,264 - 1,822,281 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1161,708,665 - 1,846,767 (-)NCBI
Celera161,641,356 - 1,755,574 (-)NCBICelera
Cytogenetic Map16p16NCBI
Slmap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554307,471,400 - 7,622,459 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554307,470,823 - 7,620,101 (+)NCBIChiLan1.0ChiLan1.0
SLMAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2257,723,573 - 57,898,859 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1357,728,730 - 57,903,636 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0357,688,669 - 57,864,355 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1359,108,247 - 59,280,713 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl359,108,247 - 59,280,713 (+)Ensemblpanpan1.1panPan2
SLMAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12032,592,576 - 32,738,515 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2032,594,417 - 32,738,823 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2032,521,391 - 32,667,566 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02032,865,997 - 33,012,696 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2032,866,001 - 33,013,397 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,321,432 - 32,468,023 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02032,678,316 - 32,826,357 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02032,850,352 - 32,996,713 (-)NCBIUU_Cfam_GSD_1.0
Slmap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118174,918,976 - 175,069,993 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364738,057,042 - 8,209,087 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364738,057,236 - 8,208,564 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLMAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1339,571,981 - 39,719,923 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11339,571,930 - 39,720,229 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21343,454,259 - 43,545,298 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLMAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12219,054,322 - 19,231,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2219,054,673 - 19,232,336 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041147,635,320 - 147,814,440 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slmap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624821493,735 - 639,801 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624821493,902 - 638,553 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLMAP
550 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3 copy number gain See cases [RCV000051468] Chr3:57911290..58409928 [GRCh38]
Chr3:57897017..58395655 [GRCh37]
Chr3:57872057..58370695 [NCBI36]
Chr3:3p14.3		 uncertain significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
NM_001377540.1(SLMAP):c.2020+1G>A single nucleotide variant Cardiac arrest [RCV000208110] Chr3:57912702 [GRCh38]
Chr3:57898429 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=) single nucleotide variant Brugada syndrome [RCV000228667]|not provided [RCV001753704]|not specified [RCV003235157] Chr3:57912649 [GRCh38]
Chr3:57898376 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.495A>G (p.Leu165=) single nucleotide variant Brugada syndrome [RCV001511605]|not provided [RCV004715775]|not specified [RCV004020833] Chr3:57849792 [GRCh38]
Chr3:57835519 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.1063G>A (p.Glu355Lys) single nucleotide variant Brugada syndrome [RCV000233780]|not specified [RCV004020832] Chr3:57864644 [GRCh38]
Chr3:57850371 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001377540.1(SLMAP):c.1300+14A>G single nucleotide variant Brugada syndrome [RCV002058222]|not provided [RCV004715795]|not specified [RCV000247291] Chr3:57871712 [GRCh38]
Chr3:57857439 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.828+11C>A single nucleotide variant Brugada syndrome [RCV000577982]|not provided [RCV001640544]|not specified [RCV000252439] Chr3:57860850 [GRCh38]
Chr3:57846577 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2394G>T (p.Glu798Asp) single nucleotide variant Brugada syndrome [RCV000550079]|not specified [RCV004023904] Chr3:57922972 [GRCh38]
Chr3:57908699 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1270A>G (p.Thr424Ala) single nucleotide variant Brugada syndrome [RCV000638722]|not specified [RCV004025523] Chr3:57871668 [GRCh38]
Chr3:57857395 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2402A>G (p.Gln801Arg) single nucleotide variant Brugada syndrome [RCV000638735]|not provided [RCV004691991]|not specified [RCV004025525] Chr3:57922980 [GRCh38]
Chr3:57908707 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.966+7A>G single nucleotide variant Brugada syndrome [RCV000558059] Chr3:57862093 [GRCh38]
Chr3:57847820 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2042A>G (p.Lys681Arg) single nucleotide variant Brugada syndrome [RCV000459536]|not specified [RCV004701511] Chr3:57913179 [GRCh38]
Chr3:57898906 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=) single nucleotide variant Brugada syndrome [RCV000463505]|not provided [RCV001755717]|not specified [RCV003323559] Chr3:57916912 [GRCh38]
Chr3:57902639 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.1382A>C (p.Glu461Ala) single nucleotide variant Brugada syndrome [RCV000474138] Chr3:57896532 [GRCh38]
Chr3:57882259 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1624+1G>T single nucleotide variant Brugada syndrome [RCV000467775] Chr3:57908007 [GRCh38]
Chr3:57893734 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.928G>A (p.Ala310Thr) single nucleotide variant Brugada syndrome [RCV000456776] Chr3:57862048 [GRCh38]
Chr3:57847775 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.563C>T (p.Thr188Met) single nucleotide variant Brugada syndrome [RCV000461131]|not specified [RCV004022866] Chr3:57857776 [GRCh38]
Chr3:57843503 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=) single nucleotide variant Brugada syndrome [RCV001515852]|not provided [RCV004716511]|not specified [RCV003987552] Chr3:57913201 [GRCh38]
Chr3:57898928 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.2272A>T (p.Ser758Cys) single nucleotide variant Brugada syndrome [RCV001461178]|not specified [RCV003230513] Chr3:57917039 [GRCh38]
Chr3:57902766 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.771C>T (p.Ser257=) single nucleotide variant Brugada syndrome [RCV001484634] Chr3:57860782 [GRCh38]
Chr3:57846509 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1317A>G (p.Glu439=) single nucleotide variant Brugada syndrome [RCV001521441]|SLMAP-related disorder [RCV003942570]|not specified [RCV004023061] Chr3:57890057 [GRCh38]
Chr3:57875784 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.347-1G>T single nucleotide variant Brugada syndrome [RCV000466114] Chr3:57841298 [GRCh38]
Chr3:57827025 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2310+7C>T single nucleotide variant Brugada syndrome [RCV001397463] Chr3:57917084 [GRCh38]
Chr3:57902811 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.-42= single nucleotide variant not specified [RCV000601495] Chr3:57757610 [GRCh38]
Chr3:57743337 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1923T>C (p.Ser641=) single nucleotide variant Brugada syndrome [RCV001521296]|not specified [RCV004023903] Chr3:57912604 [GRCh38]
Chr3:57898331 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.1432G>A (p.Asp478Asn) single nucleotide variant Brugada syndrome [RCV000638705] Chr3:57896582 [GRCh38]
Chr3:57882309 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1311C>T (p.Ile437=) single nucleotide variant Brugada syndrome [RCV001505718]|not specified [RCV004025529] Chr3:57890051 [GRCh38]
Chr3:57875778 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln) single nucleotide variant Brugada syndrome [RCV000638677]|not provided [RCV003488749]|not specified [RCV004025521] Chr3:57841359 [GRCh38]
Chr3:57827086 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1101T>C (p.Asn367=) single nucleotide variant not specified [RCV004330377] Chr3:57864682 [GRCh38]
Chr3:57850409 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2072A>G (p.His691Arg) single nucleotide variant not specified [RCV004330382] Chr3:57913209 [GRCh38]
Chr3:57898936 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=) single nucleotide variant Brugada syndrome [RCV001514192]|not provided [RCV004716584]|not specified [RCV000606368] Chr3:57896874 [GRCh38]
Chr3:57882601 [GRCh37]
Chr3:3p14.3		 benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001377540.1(SLMAP):c.524C>G (p.Ala175Gly) single nucleotide variant not specified [RCV004326093] Chr3:57857737 [GRCh38]
Chr3:57843464 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.75C>T (p.Asp25=) single nucleotide variant Brugada syndrome [RCV000638813]|not specified [RCV004025531] Chr3:57757726 [GRCh38]
Chr3:57743453 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.597T>C (p.Ala199=) single nucleotide variant Brugada syndrome [RCV003777158]|not specified [RCV004330378] Chr3:57857810 [GRCh38]
Chr3:57843537 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.991A>T (p.Ile331Phe) single nucleotide variant not specified [RCV004330379] Chr3:57864572 [GRCh38]
Chr3:57850299 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1991A>G (p.Gln664Arg) single nucleotide variant Brugada syndrome [RCV002060313] Chr3:57912672 [GRCh38]
Chr3:57898399 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1771A>G (p.Arg591Gly) single nucleotide variant not specified [RCV004330373] Chr3:57912452 [GRCh38]
Chr3:57898179 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2431G>C (p.Glu811Gln) single nucleotide variant Brugada syndrome [RCV000638657] Chr3:57923009 [GRCh38]
Chr3:57908736 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.572G>A (p.Arg191Gln) single nucleotide variant Brugada syndrome [RCV000688307] Chr3:57857785 [GRCh38]
Chr3:57843512 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.722T>C (p.Ile241Thr) single nucleotide variant Brugada syndrome [RCV000701685]|not specified [RCV004026569] Chr3:57860733 [GRCh38]
Chr3:57846460 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.703A>G (p.Ser235Gly) single nucleotide variant Brugada syndrome [RCV000687683] Chr3:57860714 [GRCh38]
Chr3:57846441 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NC_000003.12:g.57686154_57804308dup duplication Primary amenorrhea [RCV000754412] Chr3:57686154..57804308 [GRCh38]
Chr3:57671881..57790035 [GRCh37]
Chr3:3p14.3		 uncertain significance
t(2;3)(p12;p14.3) translocation Lung carcinoma [RCV000853114] Chr3:3p14.3 pathogenic
NM_001377540.1(SLMAP):c.1343A>G (p.Glu448Gly) single nucleotide variant Brugada syndrome [RCV001045426] Chr3:57890083 [GRCh38]
Chr3:57875810 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*39C>A single nucleotide variant Brugada syndrome [RCV001489568]|not specified [RCV004027675] Chr3:57927328 [GRCh38]
Chr3:57913055 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2142T>C (p.Ser714=) single nucleotide variant Brugada syndrome [RCV001436672]|not specified [RCV004027678] Chr3:57916909 [GRCh38]
Chr3:57902636 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.199-4G>T single nucleotide variant not provided [RCV000945665] Chr3:57831379 [GRCh38]
Chr3:57817106 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2235G>C (p.Gln745His) single nucleotide variant Brugada syndrome [RCV001040477]|not specified [RCV004031141] Chr3:57917002 [GRCh38]
Chr3:57902729 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1048G>A (p.Glu350Lys) single nucleotide variant Brugada syndrome [RCV001058091]|not specified [RCV004031833] Chr3:57864629 [GRCh38]
Chr3:57850356 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1988A>T (p.Asp663Val) single nucleotide variant Brugada syndrome [RCV001042945] Chr3:57912669 [GRCh38]
Chr3:57898396 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2020+5A>G single nucleotide variant Brugada syndrome [RCV000797149]|not provided [RCV004693270]|not specified [RCV004689887] Chr3:57912706 [GRCh38]
Chr3:57898433 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001377540.1(SLMAP):c.1479T>C (p.Leu493=) single nucleotide variant Brugada syndrome [RCV001404681] Chr3:57896910 [GRCh38]
Chr3:57882637 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1002G>A (p.Lys334=) single nucleotide variant Brugada syndrome [RCV001463866]|not specified [RCV004029303] Chr3:57864583 [GRCh38]
Chr3:57850310 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*57C>T single nucleotide variant Brugada syndrome [RCV001497479]|not specified [RCV004027733] Chr3:57927346 [GRCh38]
Chr3:57913073 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2055A>G (p.Ala685=) single nucleotide variant Brugada syndrome [RCV001510193]|not specified [RCV004029305] Chr3:57913192 [GRCh38]
Chr3:57898919 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.297C>T (p.Ser99=) single nucleotide variant Brugada syndrome [RCV001509751]|not specified [RCV004027611] Chr3:57831481 [GRCh38]
Chr3:57817208 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.151C>T (p.Leu51=) single nucleotide variant not provided [RCV000877644]|not specified [RCV004027895] Chr3:57757802 [GRCh38]
Chr3:57743529 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1131_1132delinsCA (p.Leu377_Gln378delinsPheLys) indel Brugada syndrome [RCV000798042] Chr3:57864712..57864713 [GRCh38]
Chr3:57850439..57850440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.646C>T (p.Arg216Trp) single nucleotide variant Brugada syndrome [RCV000811202]|not specified [RCV004028720] Chr3:57858118 [GRCh38]
Chr3:57843845 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.652G>A (p.Glu218Lys) single nucleotide variant Brugada syndrome [RCV000798679] Chr3:57858124 [GRCh38]
Chr3:57843851 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p14.3(chr3:57606386-57817218)x3 copy number gain not provided [RCV000849264] Chr3:57606386..57817218 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1284A>G (p.Gln428=) single nucleotide variant Brugada syndrome [RCV000815765] Chr3:57871682 [GRCh38]
Chr3:57857409 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2187A>G (p.Gln729=) single nucleotide variant Brugada syndrome [RCV000822575]|not specified [RCV004029107] Chr3:57916954 [GRCh38]
Chr3:57902681 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
NM_001377540.1(SLMAP):c.2440A>G (p.Asn814Asp) single nucleotide variant Brugada syndrome [RCV001223129] Chr3:57923018 [GRCh38]
Chr3:57908745 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1354T>C (p.Ser452Pro) single nucleotide variant Brugada syndrome [RCV001229765] Chr3:57890094 [GRCh38]
Chr3:57875821 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2065G>A (p.Glu689Lys) single nucleotide variant Brugada syndrome [RCV001247600] Chr3:57913202 [GRCh38]
Chr3:57898929 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1441+107dup duplication not provided [RCV003127162] Chr3:57896688..57896689 [GRCh38]
Chr3:57882415..57882416 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1084G>T (p.Ala362Ser) single nucleotide variant Brugada syndrome [RCV003104992] Chr3:57864665 [GRCh38]
Chr3:57850392 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57130421)_(58520833_?)del deletion Pyruvate dehydrogenase E1-beta deficiency [RCV003105375] Chr3:57130421..58520833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1700-223A>G single nucleotide variant not provided [RCV001725760] Chr3:57912158 [GRCh38]
Chr3:57897885 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.347-142A>G single nucleotide variant not provided [RCV001617286] Chr3:57841157 [GRCh38]
Chr3:57826884 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1624+310T>C single nucleotide variant not provided [RCV001710639] Chr3:57908316 [GRCh38]
Chr3:57894043 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.*69C>T single nucleotide variant Brugada syndrome [RCV001506165]|not specified [RCV004029311] Chr3:57927358 [GRCh38]
Chr3:57913085 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2116C>T (p.Arg706Trp) single nucleotide variant Brugada syndrome [RCV001406323]|not specified [RCV003994135] Chr3:57913253 [GRCh38]
Chr3:57898980 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001377540.1(SLMAP):c.1335G>A (p.Ala445=) single nucleotide variant Brugada syndrome [RCV001456322]|not specified [RCV004027704] Chr3:57890075 [GRCh38]
Chr3:57875802 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1739G>T (p.Arg580Leu) single nucleotide variant Brugada syndrome [RCV001400514] Chr3:57912420 [GRCh38]
Chr3:57898147 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.710G>A (p.Arg237Gln) single nucleotide variant Brugada syndrome [RCV001220048]|not specified [RCV004857766] Chr3:57860721 [GRCh38]
Chr3:57846448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1739G>A (p.Arg580Gln) single nucleotide variant Brugada syndrome [RCV001243622] Chr3:57912420 [GRCh38]
Chr3:57898147 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.211G>T (p.Asp71Tyr) single nucleotide variant Brugada syndrome [RCV001221831] Chr3:57831395 [GRCh38]
Chr3:57817122 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.711A>C (p.Arg237=) single nucleotide variant Brugada syndrome [RCV001461747] Chr3:57860722 [GRCh38]
Chr3:57846449 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1700-297T>A single nucleotide variant not provided [RCV001689083] Chr3:57912084 [GRCh38]
Chr3:57897811 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.419+167A>G single nucleotide variant not provided [RCV001617826] Chr3:57841538 [GRCh38]
Chr3:57827265 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1502-104A>G single nucleotide variant not provided [RCV001676760] Chr3:57907780 [GRCh38]
Chr3:57893507 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.347-172G>A single nucleotide variant not provided [RCV001719574] Chr3:57841127 [GRCh38]
Chr3:57826854 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.346+238A>G single nucleotide variant not provided [RCV001678529] Chr3:57831768 [GRCh38]
Chr3:57817495 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.*7-157dup duplication not provided [RCV001648951] Chr3:57927138..57927139 [GRCh38]
Chr3:57912865..57912866 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1360+104T>C single nucleotide variant not provided [RCV001695487] Chr3:57890204 [GRCh38]
Chr3:57875931 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.199-5dup duplication Brugada syndrome [RCV002073264]|not specified [RCV001700815] Chr3:57831369..57831370 [GRCh38]
Chr3:57817096..57817097 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.519+202T>A single nucleotide variant not provided [RCV001609907] Chr3:57850018 [GRCh38]
Chr3:57835745 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2286C>A (p.Asn762Lys) single nucleotide variant Brugada syndrome [RCV001220006] Chr3:57917053 [GRCh38]
Chr3:57902780 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.258T>G (p.Ser86Arg) single nucleotide variant Brugada syndrome [RCV001234166]|not specified [RCV004033230] Chr3:57831442 [GRCh38]
Chr3:57817169 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.615+6C>T single nucleotide variant Brugada syndrome [RCV001216064]|not specified [RCV004800730] Chr3:57857834 [GRCh38]
Chr3:57843561 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_001377540.1(SLMAP):c.1528A>G (p.Ile510Val) single nucleotide variant Brugada syndrome [RCV001056501] Chr3:57907910 [GRCh38]
Chr3:57893637 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.4C>T (p.Pro2Ser) single nucleotide variant Brugada syndrome [RCV001211938]|not specified [RCV004671257] Chr3:57757655 [GRCh38]
Chr3:57743382 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1249T>G (p.Ser417Ala) single nucleotide variant Brugada syndrome [RCV001057140] Chr3:57871647 [GRCh38]
Chr3:57857374 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.940A>G (p.Ile314Val) single nucleotide variant Brugada syndrome [RCV001211172] Chr3:57862060 [GRCh38]
Chr3:57847787 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1703A>G (p.Gln568Arg) single nucleotide variant Brugada syndrome [RCV001049106]|not provided [RCV004693512] Chr3:57912384 [GRCh38]
Chr3:57898111 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1390T>A (p.Phe464Ile) single nucleotide variant Brugada syndrome [RCV001039475]|not specified [RCV004031107] Chr3:57896540 [GRCh38]
Chr3:57882267 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.99A>G (p.Ser33=) single nucleotide variant not specified [RCV004683952] Chr3:57757750 [GRCh38]
Chr3:57743477 [GRCh37]
Chr3:3p14.3		 likely benign
GRCh37/hg19 3p14.3(chr3:57912545-58357970)x3 copy number gain not provided [RCV001259682] Chr3:57912545..58357970 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.687+205A>G single nucleotide variant not provided [RCV001641897] Chr3:57858364 [GRCh38]
Chr3:57844091 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.246C>T (p.Ser82=) single nucleotide variant not specified [RCV004683951] Chr3:57831430 [GRCh38]
Chr3:57817157 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.532C>T (p.Arg178Trp) single nucleotide variant Brugada syndrome [RCV001348037]|not specified [RCV004867726] Chr3:57857745 [GRCh38]
Chr3:57843472 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.198+5T>C single nucleotide variant Brugada syndrome [RCV001303990] Chr3:57757854 [GRCh38]
Chr3:57743581 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2189T>A (p.Met730Lys) single nucleotide variant Brugada syndrome [RCV001303877]|not specified [RCV004036293] Chr3:57916956 [GRCh38]
Chr3:57902683 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.824T>C (p.Val275Ala) single nucleotide variant Brugada syndrome [RCV001327799] Chr3:57860835 [GRCh38]
Chr3:57846562 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1686A>G (p.Ile562Met) single nucleotide variant Brugada syndrome [RCV001295733] Chr3:57909137 [GRCh38]
Chr3:57894864 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.966+4T>A single nucleotide variant Brugada syndrome [RCV001306825] Chr3:57862090 [GRCh38]
Chr3:57847817 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1094C>A (p.Ala365Asp) single nucleotide variant Brugada syndrome [RCV001318616]|not specified [RCV004034943] Chr3:57864675 [GRCh38]
Chr3:57850402 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.191C>T (p.Thr64Met) single nucleotide variant Brugada syndrome [RCV001305232]|not specified [RCV004036344] Chr3:57757842 [GRCh38]
Chr3:57743569 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1501+1del deletion Brugada syndrome [RCV001314653] Chr3:57896932 [GRCh38]
Chr3:57882659 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2437G>A (p.Gly813Arg) single nucleotide variant Brugada syndrome [RCV001325695] Chr3:57923015 [GRCh38]
Chr3:57908742 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.519+6A>C single nucleotide variant Brugada syndrome [RCV001337876] Chr3:57849822 [GRCh38]
Chr3:57835549 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1289T>C (p.Ile430Thr) single nucleotide variant Brugada syndrome [RCV001319459]|not specified [RCV004034972] Chr3:57871687 [GRCh38]
Chr3:57857414 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2167A>G (p.Ser723Gly) single nucleotide variant Brugada syndrome [RCV001350018]|not specified [RCV004036607] Chr3:57916934 [GRCh38]
Chr3:57902661 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.412C>T (p.Arg138Cys) single nucleotide variant Brugada syndrome [RCV001325060] Chr3:57841364 [GRCh38]
Chr3:57827091 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.941T>G (p.Ile314Ser) single nucleotide variant Brugada syndrome [RCV001314451]|not specified [RCV004034316] Chr3:57862061 [GRCh38]
Chr3:57847788 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.265T>G (p.Ser89Ala) single nucleotide variant Brugada syndrome [RCV001371098] Chr3:57831449 [GRCh38]
Chr3:57817176 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1516G>T (p.Ala506Ser) single nucleotide variant Brugada syndrome [RCV001307510]|not specified [RCV004034128] Chr3:57907898 [GRCh38]
Chr3:57893625 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1300+4A>G single nucleotide variant Brugada syndrome [RCV001294287] Chr3:57871702 [GRCh38]
Chr3:57857429 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1269C>T (p.Cys423=) single nucleotide variant Brugada syndrome [RCV001404496] Chr3:57871667 [GRCh38]
Chr3:57857394 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.93C>T (p.Gly31=) single nucleotide variant Brugada syndrome [RCV001469715]|not specified [RCV004037097] Chr3:57757744 [GRCh38]
Chr3:57743471 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.570G>A (p.Gln190=) single nucleotide variant Brugada syndrome [RCV001479026]|not specified [RCV004037184] Chr3:57857783 [GRCh38]
Chr3:57843510 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1407T>C (p.Ser469=) single nucleotide variant Brugada syndrome [RCV001503074] Chr3:57896557 [GRCh38]
Chr3:57882284 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1780T>C (p.Leu594=) single nucleotide variant Brugada syndrome [RCV001471917]|not specified [RCV004037118] Chr3:57912461 [GRCh38]
Chr3:57898188 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1238-5A>G single nucleotide variant Brugada syndrome [RCV001480827] Chr3:57871631 [GRCh38]
Chr3:57857358 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1119G>A (p.Arg373=) single nucleotide variant Brugada syndrome [RCV001486914] Chr3:57864700 [GRCh38]
Chr3:57850427 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*48A>G single nucleotide variant Brugada syndrome [RCV001487229] Chr3:57927337 [GRCh38]
Chr3:57913064 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1314C>T (p.Val438=) single nucleotide variant Brugada syndrome [RCV001403665]|not specified [RCV004037990] Chr3:57890054 [GRCh38]
Chr3:57875781 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.348T>C (p.Val116=) single nucleotide variant Brugada syndrome [RCV001470831] Chr3:57841300 [GRCh38]
Chr3:57827027 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.390A>G (p.Pro130=) single nucleotide variant Brugada syndrome [RCV001407047] Chr3:57841342 [GRCh38]
Chr3:57827069 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1866A>G (p.Leu622=) single nucleotide variant Brugada syndrome [RCV001429527]|not specified [RCV004038276] Chr3:57912547 [GRCh38]
Chr3:57898274 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1449A>G (p.Gln483=) single nucleotide variant Brugada syndrome [RCV001424306]|not specified [RCV004038219] Chr3:57896880 [GRCh38]
Chr3:57882607 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.561C>G (p.Ala187=) single nucleotide variant Brugada syndrome [RCV001479293]|not specified [RCV004037191] Chr3:57857774 [GRCh38]
Chr3:57843501 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.42G>T (p.Ser14=) single nucleotide variant Brugada syndrome [RCV001496542]|not specified [RCV004037366] Chr3:57757693 [GRCh38]
Chr3:57743420 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.828+285del deletion not provided [RCV001672018] Chr3:57861124 [GRCh38]
Chr3:57846851 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2310+8G>A single nucleotide variant Brugada syndrome [RCV001455926] Chr3:57917085 [GRCh38]
Chr3:57902812 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.829-153T>C single nucleotide variant not provided [RCV001674729] Chr3:57861796 [GRCh38]
Chr3:57847523 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.420-101C>T single nucleotide variant not provided [RCV001617592] Chr3:57847096 [GRCh38]
Chr3:57832823 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1301-4G>A single nucleotide variant Brugada syndrome [RCV001483946] Chr3:57890037 [GRCh38]
Chr3:57875764 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.-133G>A single nucleotide variant not provided [RCV001669862] Chr3:57757519 [GRCh38]
Chr3:57743246 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2311-13del deletion not provided [RCV001665740]|not specified [RCV003230686] Chr3:57922868 [GRCh38]
Chr3:57908595 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.324C>T (p.Asp108=) single nucleotide variant Brugada syndrome [RCV001516480]|not specified [RCV004037935] Chr3:57831508 [GRCh38]
Chr3:57817235 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.1776T>C (p.Asp592=) single nucleotide variant Brugada syndrome [RCV001509981]|not provided [RCV004809658]|not specified [RCV004037914] Chr3:57912457 [GRCh38]
Chr3:57898184 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.849A>G (p.Glu283=) single nucleotide variant Brugada syndrome [RCV001496160]|not specified [RCV004037359] Chr3:57861969 [GRCh38]
Chr3:57847696 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1998A>G (p.Arg666=) single nucleotide variant Brugada syndrome [RCV001504902]|not specified [RCV004037841] Chr3:57912679 [GRCh38]
Chr3:57898406 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2055A>T (p.Ala685=) single nucleotide variant Brugada syndrome [RCV001443200] Chr3:57913192 [GRCh38]
Chr3:57898919 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2085G>A (p.Arg695=) single nucleotide variant Brugada syndrome [RCV001461504] Chr3:57913222 [GRCh38]
Chr3:57898949 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.564G>A (p.Thr188=) single nucleotide variant Brugada syndrome [RCV001467913]|SLMAP-related disorder [RCV003965933]|not specified [RCV004038669] Chr3:57857777 [GRCh38]
Chr3:57843504 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2139-16A>G single nucleotide variant Brugada syndrome [RCV003108963] Chr3:57916890 [GRCh38]
Chr3:57902617 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1431C>G (p.Asp477Glu) single nucleotide variant Long QT syndrome [RCV003318453] Chr3:57896581 [GRCh38]
Chr3:57882308 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2310+232A>T single nucleotide variant not provided [RCV001753110] Chr3:57917309 [GRCh38]
Chr3:57903036 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1904G>A (p.Arg635Gln) single nucleotide variant Brugada syndrome [RCV001950520]|not specified [RCV004043128] Chr3:57912585 [GRCh38]
Chr3:57898312 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1747A>G (p.Lys583Glu) single nucleotide variant Brugada syndrome [RCV002045740] Chr3:57912428 [GRCh38]
Chr3:57898155 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*38C>T single nucleotide variant Brugada syndrome [RCV001907862]|not specified [RCV004857824] Chr3:57927327 [GRCh38]
Chr3:57913054 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.304A>G (p.Ile102Val) single nucleotide variant Brugada syndrome [RCV002045701]|not specified [RCV004046752] Chr3:57831488 [GRCh38]
Chr3:57817215 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1334C>T (p.Ala445Val) single nucleotide variant Brugada syndrome [RCV001987962]|not specified [RCV004043794] Chr3:57890074 [GRCh38]
Chr3:57875801 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001377540.1(SLMAP):c.787C>G (p.Gln263Glu) single nucleotide variant Brugada syndrome [RCV001895542]|not specified [RCV004041307] Chr3:57860798 [GRCh38]
Chr3:57846525 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.480G>C (p.Met160Ile) single nucleotide variant Brugada syndrome [RCV002024943]|not specified [RCV004046978] Chr3:57849777 [GRCh38]
Chr3:57835504 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2383A>G (p.Ile795Val) single nucleotide variant not specified [RCV004683955] Chr3:57922961 [GRCh38]
Chr3:57908688 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.829-4G>A single nucleotide variant Brugada syndrome [RCV001909032] Chr3:57861945 [GRCh38]
Chr3:57847672 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001377540.1(SLMAP):c.1312G>A (p.Val438Ile) single nucleotide variant Brugada syndrome [RCV001965094]|not specified [RCV004043018] Chr3:57890052 [GRCh38]
Chr3:57875779 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57847666)_(57847823_?)dup duplication Brugada syndrome [RCV001946507] Chr3:57847666..57847823 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1700-5T>C single nucleotide variant Brugada syndrome [RCV001983450] Chr3:57912376 [GRCh38]
Chr3:57898103 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1501+4C>T single nucleotide variant Brugada syndrome [RCV001986610] Chr3:57896936 [GRCh38]
Chr3:57882663 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1261G>A (p.Gly421Arg) single nucleotide variant Brugada syndrome [RCV001908315] Chr3:57871659 [GRCh38]
Chr3:57857386 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1690G>A (p.Val564Ile) single nucleotide variant Brugada syndrome [RCV001945709]|not specified [RCV004044170] Chr3:57909141 [GRCh38]
Chr3:57894868 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2182C>T (p.Leu728Phe) single nucleotide variant Brugada syndrome [RCV001912361] Chr3:57916949 [GRCh38]
Chr3:57902676 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1843C>T (p.Arg615Trp) single nucleotide variant Brugada syndrome [RCV001891163]|not specified [RCV004039145] Chr3:57912524 [GRCh38]
Chr3:57898251 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1814A>G (p.His605Arg) single nucleotide variant Brugada syndrome [RCV002023036]|not specified [RCV004046745] Chr3:57912495 [GRCh38]
Chr3:57898222 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1753A>C (p.Ser585Arg) single nucleotide variant Brugada syndrome [RCV002049301] Chr3:57912434 [GRCh38]
Chr3:57898161 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.880G>A (p.Glu294Lys) single nucleotide variant Brugada syndrome [RCV002038982]|not specified [RCV004044820] Chr3:57862000 [GRCh38]
Chr3:57847727 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.346+6G>T single nucleotide variant Brugada syndrome [RCV002051317] Chr3:57831536 [GRCh38]
Chr3:57817263 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2243G>A (p.Arg748Gln) single nucleotide variant Brugada syndrome [RCV001941148]|not specified [RCV004042046] Chr3:57917010 [GRCh38]
Chr3:57902737 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1109C>G (p.Thr370Ser) single nucleotide variant Brugada syndrome [RCV001923037]|not specified [RCV004043351] Chr3:57864690 [GRCh38]
Chr3:57850417 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1036A>G (p.Ile346Val) single nucleotide variant Brugada syndrome [RCV001993076]|not specified [RCV004043979] Chr3:57864617 [GRCh38]
Chr3:57850344 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2213A>T (p.Gln738Leu) single nucleotide variant Brugada syndrome [RCV002039248]|not specified [RCV004038850] Chr3:57916980 [GRCh38]
Chr3:57902707 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.346+5G>A single nucleotide variant Brugada syndrome [RCV001943641] Chr3:57831535 [GRCh38]
Chr3:57817262 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.830G>A (p.Arg277Gln) single nucleotide variant Brugada syndrome [RCV001897791]|not specified [RCV004041337] Chr3:57861950 [GRCh38]
Chr3:57847677 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2117G>A (p.Arg706Gln) single nucleotide variant Brugada syndrome [RCV001917940] Chr3:57913254 [GRCh38]
Chr3:57898981 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1655G>A (p.Arg552Gln) single nucleotide variant Brugada syndrome [RCV001932768] Chr3:57909106 [GRCh38]
Chr3:57894833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.776G>A (p.Arg259Lys) single nucleotide variant Brugada syndrome [RCV002010912] Chr3:57860787 [GRCh38]
Chr3:57846514 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.790G>C (p.Glu264Gln) single nucleotide variant Brugada syndrome [RCV001930288] Chr3:57860801 [GRCh38]
Chr3:57846528 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1559G>A (p.Arg520Gln) single nucleotide variant Brugada syndrome [RCV001995284] Chr3:57907941 [GRCh38]
Chr3:57893668 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.31C>T (p.Arg11Cys) single nucleotide variant Brugada syndrome [RCV001977160] Chr3:57757682 [GRCh38]
Chr3:57743409 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1271C>T (p.Thr424Ile) single nucleotide variant Brugada syndrome [RCV001932138]|not specified [RCV004039793] Chr3:57871669 [GRCh38]
Chr3:57857396 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.346+4C>T single nucleotide variant Brugada syndrome [RCV001955371] Chr3:57831534 [GRCh38]
Chr3:57817261 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.238A>G (p.Ile80Val) single nucleotide variant Brugada syndrome [RCV002011650] Chr3:57831422 [GRCh38]
Chr3:57817149 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57893591)_(57893753_?)del deletion Brugada syndrome [RCV001939093] Chr3:57893591..57893753 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1810C>T (p.Leu604Phe) single nucleotide variant Brugada syndrome [RCV001998391] Chr3:57912491 [GRCh38]
Chr3:57898218 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.786T>C (p.Leu262=) single nucleotide variant Brugada syndrome [RCV001958849]|not specified [RCV004044393] Chr3:57860797 [GRCh38]
Chr3:57846524 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.192G>A (p.Thr64=) single nucleotide variant Brugada syndrome [RCV001959530] Chr3:57757843 [GRCh38]
Chr3:57743570 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1315G>A (p.Glu439Lys) single nucleotide variant Brugada syndrome [RCV001980476]|not specified [RCV004045281] Chr3:57890055 [GRCh38]
Chr3:57875782 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.119C>T (p.Ala40Val) single nucleotide variant Brugada syndrome [RCV001925754] Chr3:57757770 [GRCh38]
Chr3:57743497 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1012G>C (p.Glu338Gln) single nucleotide variant Brugada syndrome [RCV001981315] Chr3:57864593 [GRCh38]
Chr3:57850320 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.723A>G (p.Ile241Met) single nucleotide variant Brugada syndrome [RCV001971941]|not specified [RCV004671541] Chr3:57860734 [GRCh38]
Chr3:57846461 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1919C>T (p.Ala640Val) single nucleotide variant Brugada syndrome [RCV001952081] Chr3:57912600 [GRCh38]
Chr3:57898327 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*55G>A single nucleotide variant Brugada syndrome [RCV001918721] Chr3:57927344 [GRCh38]
Chr3:57913071 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.852T>G (p.Asp284Glu) single nucleotide variant Brugada syndrome [RCV002013701] Chr3:57861972 [GRCh38]
Chr3:57847699 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1360+20_1360+21del deletion Brugada syndrome [RCV002206662] Chr3:57890119..57890120 [GRCh38]
Chr3:57875846..57875847 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1361-19T>G single nucleotide variant Brugada syndrome [RCV002105813] Chr3:57896492 [GRCh38]
Chr3:57882219 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.855A>G (p.Glu285=) single nucleotide variant Brugada syndrome [RCV002106465] Chr3:57861975 [GRCh38]
Chr3:57847702 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1502-4T>G single nucleotide variant Brugada syndrome [RCV002086807] Chr3:57907880 [GRCh38]
Chr3:57893607 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.829-15A>G single nucleotide variant Brugada syndrome [RCV002112342]|not specified [RCV004700614] Chr3:57861934 [GRCh38]
Chr3:57847661 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.*81G>C single nucleotide variant Brugada syndrome [RCV002192712]|not specified [RCV004045552] Chr3:57927370 [GRCh38]
Chr3:57913097 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.967-979A>G single nucleotide variant Brugada syndrome [RCV002165587] Chr3:57863569 [GRCh38]
Chr3:57849296 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.420-16A>T single nucleotide variant Brugada syndrome [RCV002189679] Chr3:57847181 [GRCh38]
Chr3:57832908 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.688-15T>C single nucleotide variant Brugada syndrome [RCV002110875] Chr3:57860684 [GRCh38]
Chr3:57846411 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.828+21del deletion Brugada syndrome [RCV002075319] Chr3:57860851 [GRCh38]
Chr3:57846578 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2268T>C (p.Leu756=) single nucleotide variant Brugada syndrome [RCV002088051]|not specified [RCV004045725] Chr3:57917035 [GRCh38]
Chr3:57902762 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1624+10A>G single nucleotide variant Brugada syndrome [RCV002126828] Chr3:57908016 [GRCh38]
Chr3:57893743 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.987G>A (p.Glu329=) single nucleotide variant Brugada syndrome [RCV002074917] Chr3:57864568 [GRCh38]
Chr3:57850295 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.419+29_419+39del deletion Brugada syndrome [RCV002187752] Chr3:57841390..57841400 [GRCh38]
Chr3:57827117..57827127 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1442-20T>A single nucleotide variant Brugada syndrome [RCV002113807] Chr3:57896853 [GRCh38]
Chr3:57882580 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.651A>G (p.Leu217=) single nucleotide variant Brugada syndrome [RCV002080154]|not specified [RCV004044923] Chr3:57858123 [GRCh38]
Chr3:57843850 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_001377540.1(SLMAP):c.2310+18_2310+20del deletion Brugada syndrome [RCV002212058] Chr3:57917093..57917095 [GRCh38]
Chr3:57902820..57902822 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.198+10C>T single nucleotide variant Brugada syndrome [RCV002097451] Chr3:57757859 [GRCh38]
Chr3:57743586 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1527A>G (p.Glu509=) single nucleotide variant Brugada syndrome [RCV002211493]|not specified [RCV004045585] Chr3:57907909 [GRCh38]
Chr3:57893636 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.828+10_828+11insA insertion Brugada syndrome [RCV002125317] Chr3:57860849..57860850 [GRCh38]
Chr3:57846576..57846577 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.520-8A>G single nucleotide variant Brugada syndrome [RCV002188662] Chr3:57857725 [GRCh38]
Chr3:57843452 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1300+8del deletion Brugada syndrome [RCV002090001] Chr3:57871706 [GRCh38]
Chr3:57857433 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2138+12CT[2] microsatellite Brugada syndrome [RCV002097619] Chr3:57913287..57913288 [GRCh38]
Chr3:57899014..57899015 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.199-14G>T single nucleotide variant Brugada syndrome [RCV002113134]|not provided [RCV004711815] Chr3:57831369 [GRCh38]
Chr3:57817096 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2310+16A>G single nucleotide variant Brugada syndrome [RCV002153812] Chr3:57917093 [GRCh38]
Chr3:57902820 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.408G>T (p.Arg136=) single nucleotide variant Brugada syndrome [RCV002095473]|not specified [RCV004045803] Chr3:57841360 [GRCh38]
Chr3:57827087 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.346+24dup duplication Brugada syndrome [RCV002132470] Chr3:57831547..57831548 [GRCh38]
Chr3:57817274..57817275 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.828+11del deletion Brugada syndrome [RCV002115749]|not specified [RCV004690249] Chr3:57860850 [GRCh38]
Chr3:57846577 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1442-10C>T single nucleotide variant Brugada syndrome [RCV002215855] Chr3:57896863 [GRCh38]
Chr3:57882590 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2115A>G (p.Gln705=) single nucleotide variant Brugada syndrome [RCV002096097]|not specified [RCV004045833] Chr3:57913252 [GRCh38]
Chr3:57898979 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2020+20A>G single nucleotide variant Brugada syndrome [RCV002150200] Chr3:57912721 [GRCh38]
Chr3:57898448 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.2020+6_2020+7insG insertion Brugada syndrome [RCV002085348] Chr3:57912707..57912708 [GRCh38]
Chr3:57898434..57898435 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1065G>A (p.Glu355=) single nucleotide variant Brugada syndrome [RCV002082145] Chr3:57864646 [GRCh38]
Chr3:57850373 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1301-12T>C single nucleotide variant Brugada syndrome [RCV002123046] Chr3:57890029 [GRCh38]
Chr3:57875756 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.198+7T>A single nucleotide variant Brugada syndrome [RCV002081415] Chr3:57757856 [GRCh38]
Chr3:57743583 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1501+7dup duplication Brugada syndrome [RCV002098160] Chr3:57896936..57896937 [GRCh38]
Chr3:57882663..57882664 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1502-13A>G single nucleotide variant Brugada syndrome [RCV002217309] Chr3:57907871 [GRCh38]
Chr3:57893598 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.457-15G>A single nucleotide variant Brugada syndrome [RCV002098667] Chr3:57849739 [GRCh38]
Chr3:57835466 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2224T>C (p.Leu742=) single nucleotide variant Brugada syndrome [RCV002204600]|not specified [RCV004045598] Chr3:57916991 [GRCh38]
Chr3:57902718 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.72G>C (p.Leu24=) single nucleotide variant Brugada syndrome [RCV002142141]|not specified [RCV004046329] Chr3:57757723 [GRCh38]
Chr3:57743450 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.828+21dup duplication Brugada syndrome [RCV002155427] Chr3:57860850..57860851 [GRCh38]
Chr3:57846577..57846578 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1361-9del deletion Brugada syndrome [RCV002122890] Chr3:57896496 [GRCh38]
Chr3:57882223 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.*81G>A single nucleotide variant Brugada syndrome [RCV002180728]|not specified [RCV004045547] Chr3:57927370 [GRCh38]
Chr3:57913097 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1704A>G (p.Gln568=) single nucleotide variant Brugada syndrome [RCV002122765] Chr3:57912385 [GRCh38]
Chr3:57898112 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.199-14G>A single nucleotide variant Brugada syndrome [RCV002123163] Chr3:57831369 [GRCh38]
Chr3:57817096 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.199-16_199-15del deletion Brugada syndrome [RCV002154314] Chr3:57831364..57831365 [GRCh38]
Chr3:57817091..57817092 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.585C>T (p.Ile195=) single nucleotide variant Brugada syndrome [RCV002156653] Chr3:57857798 [GRCh38]
Chr3:57843525 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.687+17A>C single nucleotide variant Brugada syndrome [RCV002158461] Chr3:57858176 [GRCh38]
Chr3:57843903 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.828+12A>G single nucleotide variant Brugada syndrome [RCV002155532] Chr3:57860851 [GRCh38]
Chr3:57846578 [GRCh37]
Chr3:3p14.3		 likely benign
NC_000003.11:g.(?_57743379)_(57817277_?)dup duplication Brugada syndrome [RCV003109614] Chr3:57743379..57817277 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*96A>G single nucleotide variant Brugada syndrome [RCV003111975] Chr3:57927385 [GRCh38]
Chr3:57913112 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*7-17G>C single nucleotide variant Brugada syndrome [RCV003112077] Chr3:57927279 [GRCh38]
Chr3:57913006 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1700-12A>G single nucleotide variant Brugada syndrome [RCV003115737] Chr3:57912369 [GRCh38]
Chr3:57898096 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.878A>G (p.Asn293Ser) single nucleotide variant Brugada syndrome [RCV003118419] Chr3:57861998 [GRCh38]
Chr3:57847725 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2152A>C (p.Ser718Arg) single nucleotide variant not specified [RCV004683950] Chr3:57916919 [GRCh38]
Chr3:57902646 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1262G>A (p.Gly421Glu) single nucleotide variant not specified [RCV004683953] Chr3:57871660 [GRCh38]
Chr3:57857387 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.197A>G (p.Lys66Arg) single nucleotide variant not specified [RCV004330372] Chr3:57757848 [GRCh38]
Chr3:57743575 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2329G>A (p.Val777Ile) single nucleotide variant not specified [RCV004330376] Chr3:57922907 [GRCh38]
Chr3:57908634 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.408G>C (p.Arg136=) single nucleotide variant not specified [RCV004330368] Chr3:57841360 [GRCh38]
Chr3:57827087 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.371C>T (p.Thr124Ile) single nucleotide variant not specified [RCV004049754] Chr3:57841323 [GRCh38]
Chr3:57827050 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2056T>C (p.Leu686=) single nucleotide variant Brugada syndrome [RCV003097383]|not specified [RCV004061505] Chr3:57913193 [GRCh38]
Chr3:57898920 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1260C>T (p.Gly420=) single nucleotide variant Brugada syndrome [RCV003094423]|not specified [RCV004048794] Chr3:57871658 [GRCh38]
Chr3:57857385 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001377540.1(SLMAP):c.2148G>A (p.Lys716=) single nucleotide variant not specified [RCV004059623] Chr3:57916915 [GRCh38]
Chr3:57902642 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.709C>A (p.Arg237=) single nucleotide variant not specified [RCV004055249] Chr3:57860720 [GRCh38]
Chr3:57846447 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2131T>C (p.Leu711=) single nucleotide variant Brugada syndrome [RCV003101023]|not specified [RCV004059559] Chr3:57913268 [GRCh38]
Chr3:57898995 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.33C>G (p.Arg11=) single nucleotide variant not specified [RCV004047924] Chr3:57757684 [GRCh38]
Chr3:57743411 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2137A>G (p.Asn713Asp) single nucleotide variant Brugada syndrome [RCV003101024]|not specified [RCV004059579] Chr3:57913274 [GRCh38]
Chr3:57899001 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2052T>C (p.Asn684=) single nucleotide variant not specified [RCV004061489] Chr3:57913189 [GRCh38]
Chr3:57898916 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1831G>T (p.Val611Phe) single nucleotide variant Brugada syndrome [RCV003539484]|not specified [RCV004330381] Chr3:57912512 [GRCh38]
Chr3:57898239 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.567T>C (p.Leu189=) single nucleotide variant not specified [RCV004053693] Chr3:57857780 [GRCh38]
Chr3:57843507 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.808A>G (p.Arg270Gly) single nucleotide variant not specified [RCV004055431] Chr3:57860819 [GRCh38]
Chr3:57846546 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1790C>T (p.Ala597Val) single nucleotide variant Brugada syndrome [RCV003097117]|not specified [RCV004059917] Chr3:57912471 [GRCh38]
Chr3:57898198 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1408C>G (p.Pro470Ala) single nucleotide variant not specified [RCV004058281] Chr3:57896558 [GRCh38]
Chr3:57882285 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.153A>G (p.Leu51=) single nucleotide variant Brugada syndrome [RCV003655383]|not specified [RCV004059003] Chr3:57757804 [GRCh38]
Chr3:57743531 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.826G>A (p.Glu276Lys) single nucleotide variant Brugada syndrome [RCV003099890]|not specified [RCV004055587] Chr3:57860837 [GRCh38]
Chr3:57846564 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2232A>G (p.Glu744=) single nucleotide variant not specified [RCV004060442] Chr3:57916999 [GRCh38]
Chr3:57902726 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2236C>T (p.His746Tyr) single nucleotide variant not specified [RCV004060457] Chr3:57917003 [GRCh38]
Chr3:57902730 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1107C>T (p.Phe369=) single nucleotide variant not specified [RCV004062960] Chr3:57864688 [GRCh38]
Chr3:57850415 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1341A>G (p.Glu447=) single nucleotide variant not specified [RCV004055327] Chr3:57890081 [GRCh38]
Chr3:57875808 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.280C>G (p.Pro94Ala) single nucleotide variant not specified [RCV004062291] Chr3:57831464 [GRCh38]
Chr3:57817191 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.394G>A (p.Gly132Ser) single nucleotide variant not specified [RCV004050459] Chr3:57841346 [GRCh38]
Chr3:57827073 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1997G>A (p.Arg666Lys) single nucleotide variant Brugada syndrome [RCV003539454]|not specified [RCV004060735] Chr3:57912678 [GRCh38]
Chr3:57898405 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2100A>G (p.Leu700=) single nucleotide variant not specified [RCV004061703] Chr3:57913237 [GRCh38]
Chr3:57898964 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.478A>T (p.Met160Leu) single nucleotide variant not specified [RCV004052137] Chr3:57849775 [GRCh38]
Chr3:57835502 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1749G>A (p.Lys583=) single nucleotide variant not specified [RCV004058167] Chr3:57912430 [GRCh38]
Chr3:57898157 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1026A>G (p.Leu342=) single nucleotide variant not specified [RCV004058274] Chr3:57864607 [GRCh38]
Chr3:57850334 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1633G>A (p.Glu545Lys) single nucleotide variant not specified [RCV004058963] Chr3:57909084 [GRCh38]
Chr3:57894811 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1613T>G (p.Phe538Cys) single nucleotide variant not specified [RCV004058599] Chr3:57907995 [GRCh38]
Chr3:57893722 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.691C>G (p.Gln231Glu) single nucleotide variant not specified [RCV004052961] Chr3:57860702 [GRCh38]
Chr3:57846429 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.99A>C (p.Ser33=) single nucleotide variant not specified [RCV004057754] Chr3:57757750 [GRCh38]
Chr3:57743477 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1346C>A (p.Thr449Lys) single nucleotide variant not specified [RCV004056308] Chr3:57890086 [GRCh38]
Chr3:57875813 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*78T>G single nucleotide variant not specified [RCV004063461] Chr3:57927367 [GRCh38]
Chr3:57913094 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2362A>T (p.Thr788Ser) single nucleotide variant Brugada syndrome [RCV003101178]|not specified [RCV004061952] Chr3:57922940 [GRCh38]
Chr3:57908667 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.204T>C (p.Tyr68=) single nucleotide variant not specified [RCV004059641] Chr3:57831388 [GRCh38]
Chr3:57817115 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1251A>G (p.Ser417=) single nucleotide variant not specified [RCV004049239] Chr3:57871649 [GRCh38]
Chr3:57857376 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*45T>C single nucleotide variant not specified [RCV004063362] Chr3:57927334 [GRCh38]
Chr3:57913061 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1464C>A (p.Asp488Glu) single nucleotide variant not specified [RCV004058844] Chr3:57896895 [GRCh38]
Chr3:57882622 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1704A>T (p.Gln568His) single nucleotide variant not specified [RCV004057425] Chr3:57912385 [GRCh38]
Chr3:57898112 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2356G>A (p.Glu786Lys) single nucleotide variant not specified [RCV004061924] Chr3:57922934 [GRCh38]
Chr3:57908661 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.12C>T (p.Ala4=) single nucleotide variant not specified [RCV004058243] Chr3:57757663 [GRCh38]
Chr3:57743390 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.84C>T (p.Ile28=) single nucleotide variant not specified [RCV004056193] Chr3:57757735 [GRCh38]
Chr3:57743462 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1725T>C (p.Asp575=) single nucleotide variant not specified [RCV004057527] Chr3:57912406 [GRCh38]
Chr3:57898133 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1920G>A (p.Ala640=) single nucleotide variant Brugada syndrome [RCV003655387]|not specified [RCV004059359] Chr3:57912601 [GRCh38]
Chr3:57898328 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.537A>G (p.Glu179=) single nucleotide variant not specified [RCV004052470] Chr3:57857750 [GRCh38]
Chr3:57843477 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.923A>G (p.Asn308Ser) single nucleotide variant not specified [RCV004055618] Chr3:57862043 [GRCh38]
Chr3:57847770 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.162C>T (p.Asn54=) single nucleotide variant not specified [RCV004058065] Chr3:57757813 [GRCh38]
Chr3:57743540 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.90C>T (p.Ile30=) single nucleotide variant not specified [RCV004054993] Chr3:57757741 [GRCh38]
Chr3:57743468 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2427C>T (p.Leu809=) single nucleotide variant not specified [RCV004062694] Chr3:57923005 [GRCh38]
Chr3:57908732 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2202A>G (p.Glu734=) single nucleotide variant not specified [RCV004060323] Chr3:57916969 [GRCh38]
Chr3:57902696 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1473G>A (p.Glu491=) single nucleotide variant not specified [RCV004058888] Chr3:57896904 [GRCh38]
Chr3:57882631 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2193T>A (p.Ser731=) single nucleotide variant Brugada syndrome [RCV003539456]|not specified [RCV004060299] Chr3:57916960 [GRCh38]
Chr3:57902687 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.861C>T (p.Thr287=) single nucleotide variant not specified [RCV004056558] Chr3:57861981 [GRCh38]
Chr3:57847708 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1722C>T (p.Ile574=) single nucleotide variant Brugada syndrome [RCV003539448]|not specified [RCV004057517] Chr3:57912403 [GRCh38]
Chr3:57898130 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1477C>T (p.Leu493Phe) single nucleotide variant Brugada syndrome [RCV002296494] Chr3:57896908 [GRCh38]
Chr3:57882635 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1337T>C (p.Val446Ala) single nucleotide variant Brugada syndrome [RCV003098448]|not specified [RCV004055150] Chr3:57890077 [GRCh38]
Chr3:57875804 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.434C>A (p.Pro145Gln) single nucleotide variant not specified [RCV004050036] Chr3:57847211 [GRCh38]
Chr3:57832938 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2033A>G (p.Lys678Arg) single nucleotide variant not specified [RCV004060913] Chr3:57913170 [GRCh38]
Chr3:57898897 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*51A>G single nucleotide variant not specified [RCV004063371] Chr3:57927340 [GRCh38]
Chr3:57913067 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.151C>G (p.Leu51Val) single nucleotide variant not specified [RCV004058644] Chr3:57757802 [GRCh38]
Chr3:57743529 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*70G>A single nucleotide variant Brugada syndrome [RCV003655394]|not specified [RCV004063435] Chr3:57927359 [GRCh38]
Chr3:57913086 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2241T>C (p.Leu747=) single nucleotide variant not specified [RCV004060473] Chr3:57917008 [GRCh38]
Chr3:57902735 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.213C>T (p.Asp71=) single nucleotide variant not specified [RCV004060478] Chr3:57831397 [GRCh38]
Chr3:57817124 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1798G>A (p.Glu600Lys) single nucleotide variant not specified [RCV004060480] Chr3:57912479 [GRCh38]
Chr3:57898206 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.482A>C (p.Tyr161Ser) single nucleotide variant Brugada syndrome [RCV003102639]|not specified [RCV004052197] Chr3:57849779 [GRCh38]
Chr3:57835506 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1252A>G (p.Lys418Glu) single nucleotide variant Brugada syndrome [RCV003539418]|not specified [RCV004049666] Chr3:57871650 [GRCh38]
Chr3:57857377 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_001377540.1(SLMAP):c.911C>T (p.Ala304Val) single nucleotide variant not specified [RCV004055011] Chr3:57862031 [GRCh38]
Chr3:57847758 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1572C>G (p.Ile524Met) single nucleotide variant not specified [RCV004058009] Chr3:57907954 [GRCh38]
Chr3:57893681 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1032T>C (p.His344=) single nucleotide variant not specified [RCV004057115] Chr3:57864613 [GRCh38]
Chr3:57850340 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*37G>T single nucleotide variant not specified [RCV004169082] Chr3:57927326 [GRCh38]
Chr3:57913053 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.440C>G (p.Pro147Arg) single nucleotide variant Brugada syndrome [RCV002900215]|not specified [RCV004066131] Chr3:57847217 [GRCh38]
Chr3:57832944 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2311-7C>T single nucleotide variant Brugada syndrome [RCV002907644] Chr3:57922882 [GRCh38]
Chr3:57908609 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1926A>G (p.Glu642=) single nucleotide variant Brugada syndrome [RCV003017679] Chr3:57912607 [GRCh38]
Chr3:57898334 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.70C>T (p.Leu24=) single nucleotide variant Brugada syndrome [RCV002819832] Chr3:57757721 [GRCh38]
Chr3:57743448 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1112A>G (p.Asn371Ser) single nucleotide variant Brugada syndrome [RCV002975129] Chr3:57864693 [GRCh38]
Chr3:57850420 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.113G>T (p.Arg38Leu) single nucleotide variant Brugada syndrome [RCV003033510] Chr3:57757764 [GRCh38]
Chr3:57743491 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1844G>A (p.Arg615Gln) single nucleotide variant Brugada syndrome [RCV003075273]|not specified [RCV004867841] Chr3:57912525 [GRCh38]
Chr3:57898252 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1132C>A (p.Gln378Lys) single nucleotide variant not specified [RCV004146862] Chr3:57864713 [GRCh38]
Chr3:57850440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1440A>C (p.Thr480=) single nucleotide variant Brugada syndrome [RCV002889127] Chr3:57896590 [GRCh38]
Chr3:57882317 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.626A>G (p.Asp209Gly) single nucleotide variant Brugada syndrome [RCV002953618]|not specified [RCV004068030] Chr3:57858098 [GRCh38]
Chr3:57843825 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.897A>G (p.Glu299=) single nucleotide variant Brugada syndrome [RCV003078915]|not specified [RCV004857944] Chr3:57862017 [GRCh38]
Chr3:57847744 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2190G>A (p.Met730Ile) single nucleotide variant Brugada syndrome [RCV002914240]|not specified [RCV004857926] Chr3:57916957 [GRCh38]
Chr3:57902684 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.456+17T>A single nucleotide variant Brugada syndrome [RCV002637690] Chr3:57847250 [GRCh38]
Chr3:57832977 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.563C>A (p.Thr188Lys) single nucleotide variant Brugada syndrome [RCV002756882] Chr3:57857776 [GRCh38]
Chr3:57843503 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn) single nucleotide variant not specified [RCV004153949] Chr3:57912639 [GRCh38]
Chr3:57898366 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1580A>C (p.Gln527Pro) single nucleotide variant Brugada syndrome [RCV003078158]|not specified [RCV004071843] Chr3:57907962 [GRCh38]
Chr3:57893689 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2021-14del deletion Brugada syndrome [RCV002912787] Chr3:57913141 [GRCh38]
Chr3:57898868 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1301-7T>G single nucleotide variant Brugada syndrome [RCV002910198] Chr3:57890034 [GRCh38]
Chr3:57875761 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2441A>G (p.Asn814Ser) single nucleotide variant Brugada syndrome [RCV002662410]|not specified [RCV004673699] Chr3:57923019 [GRCh38]
Chr3:57908746 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1135+6T>G single nucleotide variant Brugada syndrome [RCV002848429] Chr3:57864722 [GRCh38]
Chr3:57850449 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.829-5C>T single nucleotide variant Brugada syndrome [RCV002949284] Chr3:57861944 [GRCh38]
Chr3:57847671 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1699+16A>G single nucleotide variant Brugada syndrome [RCV002953004] Chr3:57909166 [GRCh38]
Chr3:57894893 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1766G>A (p.Ser589Asn) single nucleotide variant not specified [RCV004147044] Chr3:57912447 [GRCh38]
Chr3:57898174 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.48G>A (p.Pro16=) single nucleotide variant Brugada syndrome [RCV002889290] Chr3:57757699 [GRCh38]
Chr3:57743426 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1720A>G (p.Ile574Val) single nucleotide variant Brugada syndrome [RCV003002632] Chr3:57912401 [GRCh38]
Chr3:57898128 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.420-17T>C single nucleotide variant Brugada syndrome [RCV003083560] Chr3:57847180 [GRCh38]
Chr3:57832907 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*64C>T single nucleotide variant Brugada syndrome [RCV003082349]|not specified [RCV004073114] Chr3:57927353 [GRCh38]
Chr3:57913080 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.420-17T>A single nucleotide variant Brugada syndrome [RCV002929216] Chr3:57847180 [GRCh38]
Chr3:57832907 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.1368G>T (p.Gln456His) single nucleotide variant Brugada syndrome [RCV002595350] Chr3:57896518 [GRCh38]
Chr3:57882245 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2138+175del deletion not provided [RCV002508622] Chr3:57913441 [GRCh38]
Chr3:57899168 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1435A>G (p.Thr479Ala) single nucleotide variant Brugada syndrome [RCV002624535] Chr3:57896585 [GRCh38]
Chr3:57882312 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1238-9_1238-6del microsatellite Brugada syndrome [RCV002918116] Chr3:57871620..57871623 [GRCh38]
Chr3:57857347..57857350 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1916C>T (p.Ala639Val) single nucleotide variant Brugada syndrome [RCV002890588] Chr3:57912597 [GRCh38]
Chr3:57898324 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*66G>A single nucleotide variant Brugada syndrome [RCV002790264] Chr3:57927355 [GRCh38]
Chr3:57913082 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1105T>G (p.Phe369Val) single nucleotide variant Brugada syndrome [RCV002918279] Chr3:57864686 [GRCh38]
Chr3:57850413 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2311-14_2311-13del deletion Brugada syndrome [RCV002917717] Chr3:57922868..57922869 [GRCh38]
Chr3:57908595..57908596 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.990A>T (p.Glu330Asp) single nucleotide variant Brugada syndrome [RCV003005505] Chr3:57864571 [GRCh38]
Chr3:57850298 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2133G>A (p.Leu711=) single nucleotide variant Brugada syndrome [RCV002890001] Chr3:57913270 [GRCh38]
Chr3:57898997 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.606C>A (p.Thr202=) single nucleotide variant Brugada syndrome [RCV002632460] Chr3:57857819 [GRCh38]
Chr3:57843546 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.937G>A (p.Glu313Lys) single nucleotide variant Brugada syndrome [RCV003091885]|not specified [RCV004073173] Chr3:57862057 [GRCh38]
Chr3:57847784 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.150G>A (p.Val50=) single nucleotide variant Brugada syndrome [RCV002895757] Chr3:57757801 [GRCh38]
Chr3:57743528 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.457-7T>C single nucleotide variant Brugada syndrome [RCV003009140] Chr3:57849747 [GRCh38]
Chr3:57835474 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.904G>C (p.Glu302Gln) single nucleotide variant not specified [RCV004140935] Chr3:57862024 [GRCh38]
Chr3:57847751 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.832A>G (p.Ser278Gly) single nucleotide variant Brugada syndrome [RCV002922653]|not specified [RCV004067010] Chr3:57861952 [GRCh38]
Chr3:57847679 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1723G>A (p.Asp575Asn) single nucleotide variant Brugada syndrome [RCV002966325] Chr3:57912404 [GRCh38]
Chr3:57898131 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2124A>G (p.Glu708=) single nucleotide variant Brugada syndrome [RCV003060132] Chr3:57913261 [GRCh38]
Chr3:57898988 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1700-17T>G single nucleotide variant Brugada syndrome [RCV002717136] Chr3:57912364 [GRCh38]
Chr3:57898091 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.520-10G>A single nucleotide variant Brugada syndrome [RCV003062721] Chr3:57857723 [GRCh38]
Chr3:57843450 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2141C>A (p.Ser714Tyr) single nucleotide variant Brugada syndrome [RCV002791686] Chr3:57916908 [GRCh38]
Chr3:57902635 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2145G>C (p.Gln715His) single nucleotide variant Brugada syndrome [RCV003027056] Chr3:57916912 [GRCh38]
Chr3:57902639 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*60C>T single nucleotide variant Brugada syndrome [RCV002634586] Chr3:57927349 [GRCh38]
Chr3:57913076 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1258G>A (p.Gly420Ser) single nucleotide variant Brugada syndrome [RCV003051089] Chr3:57871656 [GRCh38]
Chr3:57857383 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.966+15T>A single nucleotide variant Brugada syndrome [RCV002944178] Chr3:57862101 [GRCh38]
Chr3:57847828 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.655G>C (p.Val219Leu) single nucleotide variant Brugada syndrome [RCV003093347] Chr3:57858127 [GRCh38]
Chr3:57843854 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2100A>C (p.Leu700=) single nucleotide variant Brugada syndrome [RCV002942200] Chr3:57913237 [GRCh38]
Chr3:57898964 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1896G>T (p.Glu632Asp) single nucleotide variant Brugada syndrome [RCV002606366] Chr3:57912577 [GRCh38]
Chr3:57898304 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1806G>T (p.Leu602Phe) single nucleotide variant Brugada syndrome [RCV002587751] Chr3:57912487 [GRCh38]
Chr3:57898214 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del) deletion Brugada syndrome [RCV003070418]|Long QT syndrome [RCV003318420] Chr3:57847209..57847214 [GRCh38]
Chr3:57832936..57832941 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1315G>C (p.Glu439Gln) single nucleotide variant Brugada syndrome [RCV002633603] Chr3:57890055 [GRCh38]
Chr3:57875782 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1625-13T>G single nucleotide variant Brugada syndrome [RCV003072070] Chr3:57909063 [GRCh38]
Chr3:57894790 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1009G>A (p.Ala337Thr) single nucleotide variant Brugada syndrome [RCV002942681] Chr3:57864590 [GRCh38]
Chr3:57850317 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1910G>A (p.Arg637Gln) single nucleotide variant Brugada syndrome [RCV002611026]|not specified [RCV004068978] Chr3:57912591 [GRCh38]
Chr3:57898318 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1569G>T (p.Leu523Phe) single nucleotide variant Brugada syndrome [RCV002588892] Chr3:57907951 [GRCh38]
Chr3:57893678 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1429G>A (p.Asp477Asn) single nucleotide variant Brugada syndrome [RCV002635048] Chr3:57896579 [GRCh38]
Chr3:57882306 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2021-19T>C single nucleotide variant Brugada syndrome [RCV002634047] Chr3:57913139 [GRCh38]
Chr3:57898866 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2357A>G (p.Glu786Gly) single nucleotide variant Brugada syndrome [RCV002587238] Chr3:57922935 [GRCh38]
Chr3:57908662 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.172G>C (p.Val58Leu) single nucleotide variant not specified [RCV004330369] Chr3:57757823 [GRCh38]
Chr3:57743550 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.875T>C (p.Met292Thr) single nucleotide variant Brugada syndrome [RCV003539483]|not specified [RCV004330370] Chr3:57861995 [GRCh38]
Chr3:57847722 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2205T>A (p.Leu735=) single nucleotide variant not specified [RCV004330371] Chr3:57916972 [GRCh38]
Chr3:57902699 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2424G>A (p.Leu808=) single nucleotide variant not specified [RCV004330375] Chr3:57923002 [GRCh38]
Chr3:57908729 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1072G>A (p.Ala358Thr) single nucleotide variant not specified [RCV004281423] Chr3:57864653 [GRCh38]
Chr3:57850380 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1953A>C (p.Gln651His) single nucleotide variant not specified [RCV004247467] Chr3:57912634 [GRCh38]
Chr3:57898361 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1365T>G (p.Asn455Lys) single nucleotide variant not specified [RCV004282839] Chr3:57896515 [GRCh38]
Chr3:57882242 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.659T>C (p.Met220Thr) single nucleotide variant not specified [RCV004270314] Chr3:57858131 [GRCh38]
Chr3:57843858 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.62A>G (p.His21Arg) single nucleotide variant not specified [RCV004330380] Chr3:57757713 [GRCh38]
Chr3:57743440 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2022T>C (p.Gly674=) single nucleotide variant not specified [RCV004247469] Chr3:57913159 [GRCh38]
Chr3:57898886 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.779G>A (p.Arg260Gln) single nucleotide variant not specified [RCV004247470] Chr3:57860790 [GRCh38]
Chr3:57846517 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1551G>A (p.Gln517=) single nucleotide variant not specified [RCV004247472] Chr3:57907933 [GRCh38]
Chr3:57893660 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2070C>T (p.Cys690=) single nucleotide variant not specified [RCV004247474] Chr3:57913207 [GRCh38]
Chr3:57898934 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.507T>G (p.Ser169=) single nucleotide variant not specified [RCV004247475] Chr3:57849804 [GRCh38]
Chr3:57835531 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1066C>T (p.Leu356Phe) single nucleotide variant not specified [RCV004247476] Chr3:57864647 [GRCh38]
Chr3:57850374 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1844G>C (p.Arg615Pro) single nucleotide variant not specified [RCV004247480] Chr3:57912525 [GRCh38]
Chr3:57898252 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.230G>A (p.Gly77Asp) single nucleotide variant not specified [RCV004247468] Chr3:57831414 [GRCh38]
Chr3:57817141 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.367T>G (p.Ser123Ala) single nucleotide variant not specified [RCV004247471] Chr3:57841319 [GRCh38]
Chr3:57827046 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.930A>G (p.Ala310=) single nucleotide variant not specified [RCV004247473] Chr3:57862050 [GRCh38]
Chr3:57847777 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.444T>C (p.Ser148=) single nucleotide variant not specified [RCV004247478] Chr3:57847221 [GRCh38]
Chr3:57832948 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1299G>T (p.Gln433His) single nucleotide variant not specified [RCV004247479] Chr3:57871697 [GRCh38]
Chr3:57857424 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1435A>C (p.Thr479Pro) single nucleotide variant not specified [RCV004366229] Chr3:57896585 [GRCh38]
Chr3:57882312 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.860C>A (p.Thr287Asn) single nucleotide variant not specified [RCV004366230] Chr3:57861980 [GRCh38]
Chr3:57847707 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1941C>T (p.Ile647=) single nucleotide variant not specified [RCV004363594] Chr3:57912622 [GRCh38]
Chr3:57898349 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.535G>A (p.Glu179Lys) single nucleotide variant SLMAP-related disorder [RCV003402188] Chr3:57857748 [GRCh38]
Chr3:57843475 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1238-20G>A single nucleotide variant Brugada syndrome [RCV003828199] Chr3:57871616 [GRCh38]
Chr3:57857343 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2415C>T (p.Asn805=) single nucleotide variant Brugada syndrome [RCV003654480] Chr3:57922993 [GRCh38]
Chr3:57908720 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2139-7A>G single nucleotide variant Brugada syndrome [RCV003882057] Chr3:57916899 [GRCh38]
Chr3:57902626 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.111T>C (p.Cys37=) single nucleotide variant Brugada syndrome [RCV003829324] Chr3:57757762 [GRCh38]
Chr3:57743489 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*37G>A single nucleotide variant Brugada syndrome [RCV003878063] Chr3:57927326 [GRCh38]
Chr3:57913053 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2403G>A (p.Gln801=) single nucleotide variant Brugada syndrome [RCV003654686] Chr3:57922981 [GRCh38]
Chr3:57908708 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2123A>G (p.Glu708Gly) single nucleotide variant Brugada syndrome [RCV003654752] Chr3:57913260 [GRCh38]
Chr3:57898987 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.573G>T (p.Arg191=) single nucleotide variant Brugada syndrome [RCV003654845] Chr3:57857786 [GRCh38]
Chr3:57843513 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1442-3T>C single nucleotide variant Brugada syndrome [RCV003654856] Chr3:57896870 [GRCh38]
Chr3:57882597 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1442-15T>C single nucleotide variant Brugada syndrome [RCV003655500] Chr3:57896858 [GRCh38]
Chr3:57882585 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.473C>T (p.Pro158Leu) single nucleotide variant Brugada syndrome [RCV003854529] Chr3:57849770 [GRCh38]
Chr3:57835497 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1699+13C>T single nucleotide variant Brugada syndrome [RCV003654664] Chr3:57909163 [GRCh38]
Chr3:57894890 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.*7-18T>C single nucleotide variant Brugada syndrome [RCV003539512] Chr3:57927278 [GRCh38]
Chr3:57913005 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2138+7A>G single nucleotide variant Brugada syndrome [RCV003654599] Chr3:57913282 [GRCh38]
Chr3:57899009 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1699+4T>G single nucleotide variant Brugada syndrome [RCV003539518] Chr3:57909154 [GRCh38]
Chr3:57894881 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.465T>C (p.Ala155=) single nucleotide variant Brugada syndrome [RCV003539520] Chr3:57849762 [GRCh38]
Chr3:57835489 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.413G>C (p.Arg138Pro) single nucleotide variant Brugada syndrome [RCV003654733] Chr3:57841365 [GRCh38]
Chr3:57827092 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1462G>T (p.Asp488Tyr) single nucleotide variant Brugada syndrome [RCV003655746] Chr3:57896893 [GRCh38]
Chr3:57882620 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*94C>G single nucleotide variant Brugada syndrome [RCV003854960] Chr3:57927383 [GRCh38]
Chr3:57913110 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2361G>T (p.Met787Ile) single nucleotide variant Brugada syndrome [RCV003654802] Chr3:57922939 [GRCh38]
Chr3:57908666 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2021-15T>C single nucleotide variant Brugada syndrome [RCV003539574] Chr3:57913143 [GRCh38]
Chr3:57898870 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1502-5G>A single nucleotide variant Brugada syndrome [RCV003539552] Chr3:57907879 [GRCh38]
Chr3:57893606 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.421G>A (p.Val141Ile) single nucleotide variant Brugada syndrome [RCV003539610] Chr3:57847198 [GRCh38]
Chr3:57832925 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.198+13C>T single nucleotide variant Brugada syndrome [RCV003851815] Chr3:57757862 [GRCh38]
Chr3:57743589 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.275G>A (p.Ser92Asn) single nucleotide variant Brugada syndrome [RCV003654685] Chr3:57831459 [GRCh38]
Chr3:57817186 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2231A>C (p.Glu744Ala) single nucleotide variant Brugada syndrome [RCV003655457] Chr3:57916998 [GRCh38]
Chr3:57902725 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.419+3G>A single nucleotide variant Brugada syndrome [RCV003655638] Chr3:57841374 [GRCh38]
Chr3:57827101 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2220A>G (p.Gly740=) single nucleotide variant Brugada syndrome [RCV003655494] Chr3:57916987 [GRCh38]
Chr3:57902714 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1699+18G>C single nucleotide variant Brugada syndrome [RCV003654583] Chr3:57909168 [GRCh38]
Chr3:57894895 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.346+9A>G single nucleotide variant Brugada syndrome [RCV003655681] Chr3:57831539 [GRCh38]
Chr3:57817266 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2353T>C (p.Phe785Leu) single nucleotide variant Brugada syndrome [RCV003655680] Chr3:57922931 [GRCh38]
Chr3:57908658 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1442-14T>C single nucleotide variant Brugada syndrome [RCV003654618] Chr3:57896859 [GRCh38]
Chr3:57882586 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.205C>A (p.Leu69Ile) single nucleotide variant Brugada syndrome [RCV003655444] Chr3:57831389 [GRCh38]
Chr3:57817116 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.809G>C (p.Arg270Thr) single nucleotide variant Brugada syndrome [RCV003655527]|not specified [RCV004673932] Chr3:57860820 [GRCh38]
Chr3:57846547 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.828+16A>G single nucleotide variant Brugada syndrome [RCV003654681] Chr3:57860855 [GRCh38]
Chr3:57846582 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2180T>C (p.Ile727Thr) single nucleotide variant Brugada syndrome [RCV003654545] Chr3:57916947 [GRCh38]
Chr3:57902674 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2312A>G (p.Tyr771Cys) single nucleotide variant Brugada syndrome [RCV003654615]|not specified [RCV004374019] Chr3:57922890 [GRCh38]
Chr3:57908617 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.519+16G>A single nucleotide variant Brugada syndrome [RCV003654731] Chr3:57849832 [GRCh38]
Chr3:57835559 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.720T>G (p.Leu240=) single nucleotide variant Brugada syndrome [RCV003654915] Chr3:57860731 [GRCh38]
Chr3:57846458 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.666C>T (p.Asn222=) single nucleotide variant Brugada syndrome [RCV003540356] Chr3:57858138 [GRCh38]
Chr3:57843865 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1483A>C (p.Lys495Gln) single nucleotide variant Brugada syndrome [RCV003846654] Chr3:57896914 [GRCh38]
Chr3:57882641 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.579A>G (p.Leu193=) single nucleotide variant Brugada syndrome [RCV003539675] Chr3:57857792 [GRCh38]
Chr3:57843519 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1992G>A (p.Gln664=) single nucleotide variant Brugada syndrome [RCV003539723] Chr3:57912673 [GRCh38]
Chr3:57898400 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1794A>C (p.Arg598=) single nucleotide variant Brugada syndrome [RCV003822372] Chr3:57912475 [GRCh38]
Chr3:57898202 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2429G>A (p.Arg810Gln) single nucleotide variant Brugada syndrome [RCV003540332] Chr3:57923007 [GRCh38]
Chr3:57908734 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1784T>C (p.Leu595Pro) single nucleotide variant Brugada syndrome [RCV003539739] Chr3:57912465 [GRCh38]
Chr3:57898192 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1693C>G (p.Leu565Val) single nucleotide variant Brugada syndrome [RCV003540155] Chr3:57909144 [GRCh38]
Chr3:57894871 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.588C>T (p.Thr196=) single nucleotide variant Brugada syndrome [RCV003540196] Chr3:57857801 [GRCh38]
Chr3:57843528 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2310+19A>G single nucleotide variant Brugada syndrome [RCV003539749] Chr3:57917096 [GRCh38]
Chr3:57902823 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.419+18C>T single nucleotide variant Brugada syndrome [RCV003539687] Chr3:57841389 [GRCh38]
Chr3:57827116 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1872A>C (p.Glu624Asp) single nucleotide variant Brugada syndrome [RCV003540340] Chr3:57912553 [GRCh38]
Chr3:57898280 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_001377540.1(SLMAP):c.1747_1749del (p.Lys583del) deletion Brugada syndrome [RCV003540464] Chr3:57912426..57912428 [GRCh38]
Chr3:57898153..57898155 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1301-19C>T single nucleotide variant Brugada syndrome [RCV003539715] Chr3:57890022 [GRCh38]
Chr3:57875749 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.732del (p.Glu245fs) deletion Brugada syndrome [RCV003540336] Chr3:57860742 [GRCh38]
Chr3:57846469 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2079A>G (p.Leu693=) single nucleotide variant Brugada syndrome [RCV003539716] Chr3:57913216 [GRCh38]
Chr3:57898943 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2376G>A (p.Lys792=) single nucleotide variant Brugada syndrome [RCV003539733]|not specified [RCV004857985] Chr3:57922954 [GRCh38]
Chr3:57908681 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2181C>T (p.Ile727=) single nucleotide variant Brugada syndrome [RCV003540134] Chr3:57916948 [GRCh38]
Chr3:57902675 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.820G>C (p.Glu274Gln) single nucleotide variant Brugada syndrome [RCV003540211] Chr3:57860831 [GRCh38]
Chr3:57846558 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2020+15T>C single nucleotide variant Brugada syndrome [RCV003847976] Chr3:57912716 [GRCh38]
Chr3:57898443 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1992G>T (p.Gln664His) single nucleotide variant Brugada syndrome [RCV003540279] Chr3:57912673 [GRCh38]
Chr3:57898400 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2385C>T (p.Ile795=) single nucleotide variant Brugada syndrome [RCV003540472] Chr3:57922963 [GRCh38]
Chr3:57908690 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.929C>T (p.Ala310Val) single nucleotide variant Brugada syndrome [RCV003861888] Chr3:57862049 [GRCh38]
Chr3:57847776 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1327A>T (p.Thr443Ser) single nucleotide variant not specified [RCV004517264] Chr3:57890067 [GRCh38]
Chr3:57875794 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1411A>G (p.Ser471Gly) single nucleotide variant not specified [RCV004517265] Chr3:57896561 [GRCh38]
Chr3:57882288 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1830G>A (p.Lys610=) single nucleotide variant not specified [RCV004517270] Chr3:57912511 [GRCh38]
Chr3:57898238 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1031A>G (p.His344Arg) single nucleotide variant not specified [RCV004517262] Chr3:57864612 [GRCh38]
Chr3:57850339 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1126G>C (p.Ala376Pro) single nucleotide variant not specified [RCV004517263] Chr3:57864707 [GRCh38]
Chr3:57850434 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1432G>T (p.Asp478Tyr) single nucleotide variant not specified [RCV004517266] Chr3:57896582 [GRCh38]
Chr3:57882309 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1438A>G (p.Thr480Ala) single nucleotide variant not specified [RCV004517267] Chr3:57896588 [GRCh38]
Chr3:57882315 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1457A>T (p.Glu486Val) single nucleotide variant not specified [RCV004517268] Chr3:57896888 [GRCh38]
Chr3:57882615 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1995G>A (p.Gln665=) single nucleotide variant not specified [RCV004517272] Chr3:57912676 [GRCh38]
Chr3:57898403 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2332C>G (p.Leu778Val) single nucleotide variant not specified [RCV004517273] Chr3:57922910 [GRCh38]
Chr3:57908637 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2426T>C (p.Leu809Pro) single nucleotide variant not specified [RCV004517275] Chr3:57923004 [GRCh38]
Chr3:57908731 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.478A>G (p.Met160Val) single nucleotide variant not specified [RCV004517278] Chr3:57849775 [GRCh38]
Chr3:57835502 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.490G>A (p.Glu164Lys) single nucleotide variant not specified [RCV004517279] Chr3:57849787 [GRCh38]
Chr3:57835514 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2335T>C (p.Ser779Pro) single nucleotide variant not specified [RCV004517274] Chr3:57922913 [GRCh38]
Chr3:57908640 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.883A>C (p.Arg295=) single nucleotide variant not specified [RCV004517280] Chr3:57862003 [GRCh38]
Chr3:57847730 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.9A>T (p.Ser3=) single nucleotide variant not specified [RCV004517281] Chr3:57757660 [GRCh38]
Chr3:57743387 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1028A>G (p.Gln343Arg) single nucleotide variant not specified [RCV004517261] Chr3:57864609 [GRCh38]
Chr3:57850336 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1793G>A (p.Arg598Gln) single nucleotide variant not specified [RCV004517269] Chr3:57912474 [GRCh38]
Chr3:57898201 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1849A>G (p.Thr617Ala) single nucleotide variant not specified [RCV004517271] Chr3:57912530 [GRCh38]
Chr3:57898257 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.328A>G (p.Thr110Ala) single nucleotide variant not specified [RCV004517276] Chr3:57831512 [GRCh38]
Chr3:57817239 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.431C>T (p.Ala144Val) single nucleotide variant not specified [RCV004517277] Chr3:57847208 [GRCh38]
Chr3:57832935 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.*117G>A single nucleotide variant not specified [RCV004526392] Chr3:57927406 [GRCh38]
Chr3:57913133 [GRCh37]
Chr3:3p14.3		 benign
NM_001377540.1(SLMAP):c.660G>A (p.Met220Ile) single nucleotide variant not specified [RCV004459561] Chr3:57858132 [GRCh38]
Chr3:57843859 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2310+27A>G single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557961] Chr3:57917104 [GRCh38]
Chr3:57902831 [GRCh37]
Chr3:3p14.3		 likely benign
NC_000003.11:g.(?_57875748)_(57875847_?)del deletion Brugada syndrome [RCV004582162] Chr3:57875748..57875847 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57743379)_(57913115_?)dup duplication Brugada syndrome [RCV004582163] Chr3:57743379..57913115 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2134C>T (p.His712Tyr) single nucleotide variant not specified [RCV004667568] Chr3:57913271 [GRCh38]
Chr3:57898998 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004667569] Chr3:57757668 [GRCh38]
Chr3:57743395 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57843440)_(58520833_?)del deletion not provided [RCV004582285] Chr3:57843440..58520833 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_001377540.1(SLMAP):c.1378A>G (p.Lys460Glu) single nucleotide variant not specified [RCV004667564] Chr3:57896528 [GRCh38]
Chr3:57882255 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.352C>T (p.His118Tyr) single nucleotide variant not specified [RCV004667565] Chr3:57841304 [GRCh38]
Chr3:57827031 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.42G>A (p.Ser14=) single nucleotide variant not specified [RCV004667567] Chr3:57757693 [GRCh38]
Chr3:57743420 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2258T>C (p.Leu753Ser) single nucleotide variant not specified [RCV004667563] Chr3:57917025 [GRCh38]
Chr3:57902752 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2050A>G (p.Asn684Asp) single nucleotide variant not specified [RCV004667570] Chr3:57913187 [GRCh38]
Chr3:57898914 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2485C>A (p.Leu829Ile) single nucleotide variant SLMAP-related disorder [RCV004754000] Chr3:57925884 [GRCh38]
Chr3:57911611 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2021-9C>G single nucleotide variant SLMAP-related disorder [RCV004731892] Chr3:57913149 [GRCh38]
Chr3:57898876 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1481C>T (p.Ala494Val) single nucleotide variant not specified [RCV004862561] Chr3:57896912 [GRCh38]
Chr3:57882639 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.94C>T (p.Arg32Cys) single nucleotide variant not specified [RCV004862558] Chr3:57757745 [GRCh38]
Chr3:57743472 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1543G>A (p.Glu515Lys) single nucleotide variant not specified [RCV004862560] Chr3:57907925 [GRCh38]
Chr3:57893652 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.30C>T (p.Cys10=) single nucleotide variant not specified [RCV004862562] Chr3:57757681 [GRCh38]
Chr3:57743408 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.874A>G (p.Met292Val) single nucleotide variant not specified [RCV004862563] Chr3:57861994 [GRCh38]
Chr3:57847721 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1851T>C (p.Thr617=) single nucleotide variant not specified [RCV004862564] Chr3:57912532 [GRCh38]
Chr3:57898259 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1244T>C (p.Leu415Ser) single nucleotide variant not specified [RCV004862565] Chr3:57871642 [GRCh38]
Chr3:57857369 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1320G>A (p.Gly440=) single nucleotide variant not specified [RCV004862559] Chr3:57890060 [GRCh38]
Chr3:57875787 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2226G>A (p.Leu742=) single nucleotide variant not specified [RCV004862566] Chr3:57916993 [GRCh38]
Chr3:57902720 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.395G>T (p.Gly132Val) single nucleotide variant not specified [RCV004865193] Chr3:57841347 [GRCh38]
Chr3:57827074 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1772G>C (p.Arg591Thr) single nucleotide variant not specified [RCV004865194] Chr3:57912453 [GRCh38]
Chr3:57898180 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1657A>C (p.Asn553His) single nucleotide variant not specified [RCV004865195] Chr3:57909108 [GRCh38]
Chr3:57894835 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.917A>G (p.Lys306Arg) single nucleotide variant not specified [RCV004865196] Chr3:57862037 [GRCh38]
Chr3:57847764 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2053G>T (p.Ala685Ser) single nucleotide variant not specified [RCV004865197] Chr3:57913190 [GRCh38]
Chr3:57898917 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.450T>C (p.Val150=) single nucleotide variant not specified [RCV004865198] Chr3:57847227 [GRCh38]
Chr3:57832954 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1098T>C (p.Asp366=) single nucleotide variant not specified [RCV004865219] Chr3:57864679 [GRCh38]
Chr3:57850406 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1311C>A (p.Ile437=) single nucleotide variant not specified [RCV004865220] Chr3:57890051 [GRCh38]
Chr3:57875778 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1023A>T (p.Glu341Asp) single nucleotide variant not specified [RCV004865221] Chr3:57864604 [GRCh38]
Chr3:57850331 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2369A>G (p.Gln790Arg) single nucleotide variant not specified [RCV004873193] Chr3:57922947 [GRCh38]
Chr3:57908674 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.165C>T (p.His55=) single nucleotide variant not specified [RCV004865207] Chr3:57757816 [GRCh38]
Chr3:57743543 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1445C>T (p.Ala482Val) single nucleotide variant not specified [RCV004865218] Chr3:57896876 [GRCh38]
Chr3:57882603 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1423A>T (p.Ser475Cys) single nucleotide variant not specified [RCV004865199] Chr3:57896573 [GRCh38]
Chr3:57882300 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2280A>T (p.Ala760=) single nucleotide variant not specified [RCV004865205] Chr3:57917047 [GRCh38]
Chr3:57902774 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2301G>A (p.Val767=) single nucleotide variant not specified [RCV004865206] Chr3:57917068 [GRCh38]
Chr3:57902795 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.132C>T (p.Ala44=) single nucleotide variant not specified [RCV004865208] Chr3:57757783 [GRCh38]
Chr3:57743510 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.135T>C (p.Thr45=) single nucleotide variant not specified [RCV004865209] Chr3:57757786 [GRCh38]
Chr3:57743513 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2191T>A (p.Ser731Thr) single nucleotide variant not specified [RCV004865210] Chr3:57916958 [GRCh38]
Chr3:57902685 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2193T>C (p.Ser731=) single nucleotide variant not specified [RCV004865211] Chr3:57916960 [GRCh38]
Chr3:57902687 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2188A>G (p.Met730Val) single nucleotide variant not specified [RCV004865212] Chr3:57916955 [GRCh38]
Chr3:57902682 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.2208G>A (p.Glu736=) single nucleotide variant not specified [RCV004865213] Chr3:57916975 [GRCh38]
Chr3:57902702 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2184T>G (p.Leu728=) single nucleotide variant not specified [RCV004865214] Chr3:57916951 [GRCh38]
Chr3:57902678 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.885G>A (p.Arg295=) single nucleotide variant not specified [RCV004865217] Chr3:57862005 [GRCh38]
Chr3:57847732 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.2103A>T (p.Ser701=) single nucleotide variant not specified [RCV004865200] Chr3:57913240 [GRCh38]
Chr3:57898967 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1553A>T (p.His518Leu) single nucleotide variant not specified [RCV004865201] Chr3:57907935 [GRCh38]
Chr3:57893662 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.1301A>G (p.Lys434Arg) single nucleotide variant not specified [RCV004865202] Chr3:57890041 [GRCh38]
Chr3:57875768 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.263G>A (p.Gly88Asp) single nucleotide variant not specified [RCV004865203] Chr3:57831447 [GRCh38]
Chr3:57817174 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001377540.1(SLMAP):c.156A>C (p.Ser52=) single nucleotide variant not specified [RCV004865204] Chr3:57757807 [GRCh38]
Chr3:57743534 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1832T>C (p.Val611Ala) single nucleotide variant not specified [RCV004865215] Chr3:57912513 [GRCh38]
Chr3:57898240 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1035A>G (p.Lys345=) single nucleotide variant not specified [RCV004865216] Chr3:57864616 [GRCh38]
Chr3:57850343 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001377540.1(SLMAP):c.1792C>G (p.Arg598Gly) single nucleotide variant not specified [RCV004865222] Chr3:57912473 [GRCh38]
Chr3:57898200 [GRCh37]
Chr3:3p14.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7815
Count of miRNA genes:1397
Interacting mature miRNAs:1886
Transcripts:ENST00000295951, ENST00000295952, ENST00000383718, ENST00000416658, ENST00000416870, ENST00000417128, ENST00000428312, ENST00000438794, ENST00000442599, ENST00000449503, ENST00000459654, ENST00000460223, ENST00000461354, ENST00000465203, ENST00000466255, ENST00000467901, ENST00000472546, ENST00000475055, ENST00000476471, ENST00000481846, ENST00000494088, ENST00000495364, ENST00000497084
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597303442GWAS1399516_Hneutrophil count QTL GWAS1399516 (human)2e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)35776074757760748Human
597294355GWAS1390429_Hmean arterial pressure QTL GWAS1390429 (human)1e-08mean arterial pressuremean arterial blood pressure (CMO:0000009)35785406857854069Human
597043974GWAS1140048_Hforced expiratory volume QTL GWAS1140048 (human)3e-08forced expiratory volumeforced expiratory volume (CMO:0000254)35788426357884264Human
597060932GWAS1157006_Hvital capacity QTL GWAS1157006 (human)1e-11vital capacity35776078857760789Human
597283851GWAS1379925_Hdiastolic blood pressure QTL GWAS1379925 (human)2e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)35785406857854069Human
597147333GWAS1243407_Hchronic obstructive pulmonary disease QTL GWAS1243407 (human)1e-31lung integrity trait (VT:0010906)35789687457896875Human
407054869GWAS703845_Hvital capacity QTL GWAS703845 (human)1e-11vital capacity35789388457893885Human
406943127GWAS592103_Hforced expiratory volume QTL GWAS592103 (human)4e-26forced expiratory volumeforced expiratory volume (CMO:0000254)35789388457893885Human
597268367GWAS1364441_Hdiastolic blood pressure QTL GWAS1364441 (human)3e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)35791363957913640Human
597186619GWAS1282693_Hforced expiratory volume QTL GWAS1282693 (human)1e-16forced expiratory volumeforced expiratory volume (CMO:0000254)35789687457896875Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
597586104GWAS1642964_Hdiastolic blood pressure change measurement QTL GWAS1642964 (human)2e-12diastolic blood pressure change measurementchange in diastolic blood pressure (CMO:0001016)35778013557780136Human
597603065GWAS1659925_Htype 2 diabetes mellitus QTL GWAS1659925 (human)3e-08type 2 diabetes mellituship circumference (CMO:0000014)35778013557780136Human
597331965GWAS1428039_Hsmoking initiation QTL GWAS1428039 (human)2e-14smoking initiation35784363957843640Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
597272818GWAS1368892_HX-12063 measurement QTL GWAS1368892 (human)4e-08X-12063 measurement35783714357837144Human
407054184GWAS703160_Hpeak expiratory flow QTL GWAS703160 (human)3e-10peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)35789388457893885Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
407046959GWAS695935_Hgestational age QTL GWAS695935 (human)0.000005gestational age35779410957794110Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human
597121080GWAS1217154_Hforced expiratory volume QTL GWAS1217154 (human)4e-08forced expiratory volumeforced expiratory volume (CMO:0000254)35775931157759312Human
597451315GWAS1547389_Hdiastolic blood pressure QTL GWAS1547389 (human)7e-16diastolic blood pressurediastolic blood pressure (CMO:0000005)35791363957913640Human
597346222GWAS1442296_Hforced expiratory volume QTL GWAS1442296 (human)4e-44forced expiratory volumeforced expiratory volume (CMO:0000254)35788592857885929Human
407053755GWAS702731_Hchronic obstructive pulmonary disease QTL GWAS702731 (human)2e-08lung integrity trait (VT:0010906)35776078857760789Human
597061679GWAS1157753_HFEV/FVC ratio QTL GWAS1157753 (human)9e-27FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35776078857760789Human
597178017GWAS1274091_Hsmoking initiation QTL GWAS1274091 (human)1e-12smoking initiation35792080857920809Human
597213091GWAS1309165_Hinfantile hypertrophic pyloric stenosis QTL GWAS1309165 (human)0.0000002infantile hypertrophic pyloric stenosis35788423657884237Human
597141611GWAS1237685_Hneuroimaging measurement QTL GWAS1237685 (human)2e-08neuroimaging measurement35777292857772929Human
597213092GWAS1309166_Hinfantile hypertrophic pyloric stenosis QTL GWAS1309166 (human)5e-08infantile hypertrophic pyloric stenosis35788423657884237Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
597496163GWAS1592237_Hhip geometry QTL GWAS1592237 (human)3e-08hip geometry35778013557780136Human
407000125GWAS649101_Hdiastolic blood pressure QTL GWAS649101 (human)2e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)35775751957757520Human
597076009GWAS1172083_Hlate-onset Alzheimers disease QTL GWAS1172083 (human)0.000002late-onset Alzheimers disease35783021557830216Human
407107580GWAS756556_HFEV/FVC ratio QTL GWAS756556 (human)2e-19FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35789388457893885Human

Markers in Region
G16530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,895,752 - 57,895,906UniSTSGRCh37
Build 36357,870,792 - 57,870,946RGDNCBI36
Celera357,909,667 - 57,909,821RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef357,993,227 - 57,993,381UniSTS
STS-N21213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,913,397 - 57,913,671UniSTSGRCh37
Build 36357,888,437 - 57,888,711RGDNCBI36
Celera357,927,312 - 57,927,586RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef358,010,839 - 58,011,113UniSTS
GeneMap99-GB4 RH Map3191.33UniSTS
NCBI RH Map3543.6UniSTS
RH47974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,897,491 - 57,897,628UniSTSGRCh37
Build 36357,872,531 - 57,872,668RGDNCBI36
Celera357,911,406 - 57,911,543RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef357,994,966 - 57,995,103UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
NCBI RH Map3526.4UniSTS
RH45625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,880,596 - 57,880,730UniSTSGRCh37
Build 36357,855,636 - 57,855,770RGDNCBI36
Celera357,894,511 - 57,894,645RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef357,978,156 - 57,978,290UniSTS
GeneMap99-GB4 RH Map3191.33UniSTS
NCBI RH Map3543.6UniSTS
RH98947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,913,388 - 57,913,540UniSTSGRCh37
Build 36357,888,428 - 57,888,580RGDNCBI36
Celera357,927,303 - 57,927,455RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef358,010,830 - 58,010,982UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
D3S4071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,866,980 - 57,867,099UniSTSGRCh37
Build 36357,842,020 - 57,842,139RGDNCBI36
Celera357,880,896 - 57,881,015RGD
HuRef357,964,536 - 57,964,655UniSTS
D3S4053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,866,945 - 57,867,115UniSTSGRCh37
Build 36357,841,985 - 57,842,155RGDNCBI36
Celera357,880,861 - 57,881,031RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef357,964,501 - 57,964,671UniSTS
WI-13681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,876,798 - 57,876,923UniSTSGRCh37
Build 36357,851,838 - 57,851,963RGDNCBI36
Celera357,890,714 - 57,890,839RGD
Cytogenetic Map3p21.2-p14.3UniSTS
HuRef357,974,356 - 57,974,481UniSTS
GeneMap99-GB4 RH Map3200.15UniSTS
Whitehead-RH Map3233.3UniSTS
EST17C8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,893,620 - 57,893,724UniSTSGRCh37
Build 36357,868,660 - 57,868,764RGDNCBI36
Celera357,907,535 - 57,907,639RGD
HuRef357,991,179 - 57,991,283UniSTS
MARC_17013-17014:1023291181:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,843,486 - 57,843,862UniSTSGRCh37
Build 36357,818,526 - 57,818,902RGDNCBI36
Celera357,857,398 - 57,857,774RGD
HuRef357,941,043 - 57,941,419UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4966 1726 2351 6 624 1950 465 2269 7306 6472 53 3727 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001311178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001311179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA625308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB046821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW292835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF508478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ022030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ771573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB100357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295951   ⟹   ENSP00000295951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,230 - 57,929,168 (+)Ensembl
Ensembl Acc Id: ENST00000295952   ⟹   ENSP00000295952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,447 - 57,929,167 (+)Ensembl
Ensembl Acc Id: ENST00000383718   ⟹   ENSP00000373224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,554 - 57,902,145 (+)Ensembl
Ensembl Acc Id: ENST00000416658   ⟹   ENSP00000389978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,864,586 - 57,927,559 (+)Ensembl
Ensembl Acc Id: ENST00000417128   ⟹   ENSP00000412829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,244 - 57,929,126 (+)Ensembl
Ensembl Acc Id: ENST00000428312   ⟹   ENSP00000398661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,013 - 57,929,094 (+)Ensembl
Ensembl Acc Id: ENST00000438794   ⟹   ENSP00000391886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,918,454 (+)Ensembl
Ensembl Acc Id: ENST00000449503   ⟹   ENSP00000412945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,558 - 57,928,948 (+)Ensembl
Ensembl Acc Id: ENST00000459654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,889,991 - 57,912,518 (+)Ensembl
Ensembl Acc Id: ENST00000460223   ⟹   ENSP00000420703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,916,965 - 57,927,947 (+)Ensembl
Ensembl Acc Id: ENST00000461354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,896,340 - 57,912,435 (+)Ensembl
Ensembl Acc Id: ENST00000465203   ⟹   ENSP00000419849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,869 (+)Ensembl
Ensembl Acc Id: ENST00000466255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,896,341 - 57,912,581 (+)Ensembl
Ensembl Acc Id: ENST00000467901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,301 - 57,891,206 (+)Ensembl
Ensembl Acc Id: ENST00000472546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,889,991 - 57,912,688 (+)Ensembl
Ensembl Acc Id: ENST00000475055   ⟹   ENSP00000499520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,869 (+)Ensembl
Ensembl Acc Id: ENST00000476471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,912,295 - 57,916,971 (+)Ensembl
Ensembl Acc Id: ENST00000481846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,755,450 - 57,757,067 (+)Ensembl
Ensembl Acc Id: ENST00000494088   ⟹   ENSP00000418218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,890,041 - 57,927,393 (+)Ensembl
Ensembl Acc Id: ENST00000497084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,916,981 - 57,926,290 (+)Ensembl
Ensembl Acc Id: ENST00000655012   ⟹   ENSP00000499412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,932 - 57,864,639 (+)Ensembl
Ensembl Acc Id: ENST00000657480   ⟹   ENSP00000499567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,236 - 57,927,567 (+)Ensembl
Ensembl Acc Id: ENST00000658689   ⟹   ENSP00000499426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,896,239 - 57,927,460 (+)Ensembl
Ensembl Acc Id: ENST00000659705   ⟹   ENSP00000499241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,309 - 57,930,003 (+)Ensembl
Ensembl Acc Id: ENST00000659926   ⟹   ENSP00000499233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,328 (+)Ensembl
Ensembl Acc Id: ENST00000662629   ⟹   ENSP00000499345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,890,048 - 57,929,152 (+)Ensembl
Ensembl Acc Id: ENST00000664084   ⟹   ENSP00000499727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,757,120 - 57,929,162 (+)Ensembl
Ensembl Acc Id: ENST00000667800   ⟹   ENSP00000499603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,597 - 57,929,113 (+)Ensembl
Ensembl Acc Id: ENST00000670768   ⟹   ENSP00000499553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,244 - 57,929,956 (+)Ensembl
Ensembl Acc Id: ENST00000671191   ⟹   ENSP00000499458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,309 - 57,930,003 (+)Ensembl
Ensembl Acc Id: ENST00000705628   ⟹   ENSP00000516144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,244 - 57,929,248 (+)Ensembl
Ensembl Acc Id: ENST00000705629   ⟹   ENSP00000516145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,248 (+)Ensembl
Ensembl Acc Id: ENST00000705630   ⟹   ENSP00000516146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,162 (+)Ensembl
Ensembl Acc Id: ENST00000705648   ⟹   ENSP00000516147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,918,454 (+)Ensembl
Ensembl Acc Id: ENST00000705649   ⟹   ENSP00000516148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,918,466 (+)Ensembl
Ensembl Acc Id: ENST00000705650   ⟹   ENSP00000516149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,248 (+)Ensembl
Ensembl Acc Id: ENST00000705651   ⟹   ENSP00000516150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,248 (+)Ensembl
Ensembl Acc Id: ENST00000705652   ⟹   ENSP00000516151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,260 (+)Ensembl
Ensembl Acc Id: ENST00000705653   ⟹   ENSP00000516152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,756,282 - 57,929,869 (+)Ensembl
Ensembl Acc Id: ENST00000705654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,828,423 - 57,929,869 (+)Ensembl
RefSeq Acc Id: NM_001304420   ⟹   NP_001291349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
CHM1_1357,693,234 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304421   ⟹   NP_001291350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,757,256 - 57,930,013 (+)NCBI
CHM1_1357,693,234 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,797,631 - 57,970,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304422   ⟹   NP_001291351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,930,003 (+)NCBI
CHM1_1357,825,817 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304423   ⟹   NP_001291352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,930,003 (+)NCBI
CHM1_1357,825,817 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001311178   ⟹   NP_001298107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,930,003 (+)NCBI
CHM1_1357,825,817 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001311179   ⟹   NP_001298108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,918,482 (+)NCBI
CHM1_1357,825,817 - 57,854,405 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,958,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377538   ⟹   NP_001364467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377539   ⟹   NP_001364468
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377540   ⟹   NP_001364469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377541   ⟹   NP_001364470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377542   ⟹   NP_001364471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377545   ⟹   NP_001364474
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377549   ⟹   NP_001364478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377551   ⟹   NP_001364480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377552   ⟹   NP_001364481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377555   ⟹   NP_001364484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377557   ⟹   NP_001364486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377559   ⟹   NP_001364488
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377562   ⟹   NP_001364491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377921   ⟹   NP_001364850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377922   ⟹   NP_001364851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377923   ⟹   NP_001364852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377924   ⟹   NP_001364853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377925   ⟹   NP_001364854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377926   ⟹   NP_001364855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377927   ⟹   NP_001364856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377928   ⟹   NP_001364857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,002 - 57,913,612 (+)NCBI
T2T-CHM13v2.0357,930,374 - 57,953,982 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007159   ⟹   NP_009090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Build 36357,718,214 - 57,889,934 (+)NCBI Archive
Celera357,757,094 - 57,928,809 (+)RGD
HuRef357,840,319 - 58,012,336 (+)ENTREZGENE
CHM1_1357,693,234 - 57,865,938 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165328
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,003 (+)NCBI
T2T-CHM13v2.0357,796,684 - 57,970,373 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265456   ⟹   XP_005265513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265459   ⟹   XP_005265516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265460   ⟹   XP_005265517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265462   ⟹   XP_005265519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265465   ⟹   XP_005265522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265467   ⟹   XP_005265524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265468   ⟹   XP_005265525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265470   ⟹   XP_005265527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265472   ⟹   XP_005265529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
GRCh37357,741,948 - 57,915,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713326   ⟹   XP_006713389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534103   ⟹   XP_011532405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534105   ⟹   XP_011532407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534106   ⟹   XP_011532408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,896,340 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007147   ⟹   XP_016862636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007155   ⟹   XP_016862644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007159   ⟹   XP_016862648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007161   ⟹   XP_016862650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007169   ⟹   XP_016862658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,912,408 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448888   ⟹   XP_047304844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,925,934 (+)NCBI
RefSeq Acc Id: XM_047448889   ⟹   XP_047304845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
RefSeq Acc Id: XM_047448890   ⟹   XP_047304846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
RefSeq Acc Id: XM_047448891   ⟹   XP_047304847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,925,934 (+)NCBI
RefSeq Acc Id: XM_047448892   ⟹   XP_047304848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
RefSeq Acc Id: XM_047448893   ⟹   XP_047304849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,930,013 (+)NCBI
RefSeq Acc Id: XM_047448894   ⟹   XP_047304850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,757,256 - 57,930,013 (+)NCBI
RefSeq Acc Id: XM_047448895   ⟹   XP_047304851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,896,566 (+)NCBI
RefSeq Acc Id: XM_047448896   ⟹   XP_047304852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,756,309 - 57,896,566 (+)NCBI
RefSeq Acc Id: XM_054347800   ⟹   XP_054203775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347801   ⟹   XP_054203776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,966,304 (+)NCBI
RefSeq Acc Id: XM_054347802   ⟹   XP_054203777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347803   ⟹   XP_054203778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347804   ⟹   XP_054203779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347805   ⟹   XP_054203780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347806   ⟹   XP_054203781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347807   ⟹   XP_054203782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347808   ⟹   XP_054203783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347809   ⟹   XP_054203784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347810   ⟹   XP_054203785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347811   ⟹   XP_054203786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347812   ⟹   XP_054203787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347813   ⟹   XP_054203788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347814   ⟹   XP_054203789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,966,304 (+)NCBI
RefSeq Acc Id: XM_054347815   ⟹   XP_054203790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347816   ⟹   XP_054203791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347817   ⟹   XP_054203792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347818   ⟹   XP_054203793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347819   ⟹   XP_054203794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347820   ⟹   XP_054203795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347821   ⟹   XP_054203796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347822   ⟹   XP_054203797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,797,631 - 57,970,383 (+)NCBI
RefSeq Acc Id: XM_054347823   ⟹   XP_054203798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,952,778 (+)NCBI
RefSeq Acc Id: XM_054347824   ⟹   XP_054203799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,936,939 (+)NCBI
RefSeq Acc Id: XM_054347825   ⟹   XP_054203800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,796,684 - 57,936,939 (+)NCBI
RefSeq Acc Id: XM_054347826   ⟹   XP_054203801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,936,725 - 57,970,383 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001291349 (Get FASTA)   NCBI Sequence Viewer  
  NP_001291350 (Get FASTA)   NCBI Sequence Viewer  
  NP_001291351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001291352 (Get FASTA)   NCBI Sequence Viewer  
  NP_001298107 (Get FASTA)   NCBI Sequence Viewer  
  NP_001298108 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364467 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364468 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364481 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364484 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364486 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364488 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364491 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364850 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364851 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364854 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364857 (Get FASTA)   NCBI Sequence Viewer  
  NP_009090 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265513 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265516 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265517 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265519 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265522 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265524 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265525 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265527 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265529 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713389 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532405 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532407 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532408 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862636 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862644 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862648 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862650 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862658 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304844 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304845 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304846 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304847 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304848 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304849 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304850 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304851 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304852 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203775 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203776 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203777 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203779 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203780 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203781 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203783 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203785 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203787 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203794 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203795 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203796 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203801 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD43014 (Get FASTA)   NCBI Sequence Viewer  
  AAG41949 (Get FASTA)   NCBI Sequence Viewer  
  AAI14628 (Get FASTA)   NCBI Sequence Viewer  
  AAI15702 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88776 (Get FASTA)   NCBI Sequence Viewer  
  BAB13427 (Get FASTA)   NCBI Sequence Viewer  
  BAC85803 (Get FASTA)   NCBI Sequence Viewer  
  BAH13213 (Get FASTA)   NCBI Sequence Viewer  
  BAH13849 (Get FASTA)   NCBI Sequence Viewer  
  BAH14200 (Get FASTA)   NCBI Sequence Viewer  
  BAH14807 (Get FASTA)   NCBI Sequence Viewer  
  CAD39194 (Get FASTA)   NCBI Sequence Viewer  
  CAH10369 (Get FASTA)   NCBI Sequence Viewer  
  EAW65347 (Get FASTA)   NCBI Sequence Viewer  
  EAW65348 (Get FASTA)   NCBI Sequence Viewer  
  EAW65349 (Get FASTA)   NCBI Sequence Viewer  
  EAW65350 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295951
  ENSP00000295951.3
  ENSP00000295952.3
  ENSP00000373224
  ENSP00000373224.3
  ENSP00000389978.1
  ENSP00000391886
  ENSP00000391886.2
  ENSP00000398661
  ENSP00000398661.2
  ENSP00000412829
  ENSP00000412829.3
  ENSP00000412945
  ENSP00000412945.2
  ENSP00000418218
  ENSP00000418218.2
  ENSP00000419849
  ENSP00000419849.2
  ENSP00000420703.1
  ENSP00000499233.1
  ENSP00000499241
  ENSP00000499241.1
  ENSP00000499345.1
  ENSP00000499412.1
  ENSP00000499426.1
  ENSP00000499458
  ENSP00000499458.1
  ENSP00000499520
  ENSP00000499520.2
  ENSP00000499553
  ENSP00000499553.2
  ENSP00000499567.1
  ENSP00000499603.1
  ENSP00000499727.1
  ENSP00000516144
  ENSP00000516144.1
  ENSP00000516145
  ENSP00000516145.1
  ENSP00000516146.1
  ENSP00000516147
  ENSP00000516147.1
  ENSP00000516148
  ENSP00000516148.1
  ENSP00000516149
  ENSP00000516149.1
  ENSP00000516150
  ENSP00000516150.1
  ENSP00000516151
  ENSP00000516151.1
  ENSP00000516152.1
GenBank Protein Q14BN4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_009090   ⟸   NM_007159
- Peptide Label: isoform b
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265513   ⟸   XM_005265456
- Peptide Label: isoform X1
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265525   ⟸   XM_005265468
- Peptide Label: isoform X12
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265519   ⟸   XM_005265462
- Peptide Label: isoform X6
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265516   ⟸   XM_005265459
- Peptide Label: isoform X3
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265524   ⟸   XM_005265467
- Peptide Label: isoform X9
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL),   A0A994J562 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265529   ⟸   XM_005265472
- Peptide Label: isoform X19
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265517   ⟸   XM_005265460
- Peptide Label: isoform X4
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265522   ⟸   XM_005265465
- Peptide Label: isoform X8
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265527   ⟸   XM_005265470
- Peptide Label: isoform X14
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713389   ⟸   XM_006713326
- Peptide Label: isoform X18
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291349   ⟸   NM_001304420
- Peptide Label: isoform a
- UniProtKB: Q9HCH1 (UniProtKB/Swiss-Prot),   Q9H297 (UniProtKB/Swiss-Prot),   Q8NCW9 (UniProtKB/Swiss-Prot),   Q6ZVQ8 (UniProtKB/Swiss-Prot),   Q6UXC9 (UniProtKB/Swiss-Prot),   Q6AI54 (UniProtKB/Swiss-Prot),   Q14C95 (UniProtKB/Swiss-Prot),   Q9Y681 (UniProtKB/Swiss-Prot),   Q14BN4 (UniProtKB/Swiss-Prot),   A0A994J562 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291350   ⟸   NM_001304421
- Peptide Label: isoform c
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291351   ⟸   NM_001304422
- Peptide Label: isoform d
- UniProtKB: B7Z964 (UniProtKB/TrEMBL),   H7BZK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291352   ⟸   NM_001304423
- Peptide Label: isoform e
- UniProtKB: B7Z6C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532405   ⟸   XM_011534103
- Peptide Label: isoform X10
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532407   ⟸   XM_011534105
- Peptide Label: isoform X21
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532408   ⟸   XM_011534106
- Peptide Label: isoform X27
- UniProtKB: B7Z964 (UniProtKB/TrEMBL),   H7BZK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001298107   ⟸   NM_001311178
- Peptide Label: isoform f
- UniProtKB: H7BZK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001298108   ⟸   NM_001311179
- Peptide Label: isoform g
- UniProtKB: Q14BN4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862648   ⟸   XM_017007159
- Peptide Label: isoform X16
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862644   ⟸   XM_017007155
- Peptide Label: isoform X13
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862650   ⟸   XM_017007161
- Peptide Label: isoform X17
- UniProtKB: A0A994J5K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862636   ⟸   XM_017007147
- Peptide Label: isoform X5
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862658   ⟸   XM_017007169
- Peptide Label: isoform X24
- UniProtKB: A0A590UJU9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364467   ⟸   NM_001377538
- Peptide Label: isoform h
- UniProtKB: A0A994J5K5 (UniProtKB/TrEMBL),   A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364469   ⟸   NM_001377540
- Peptide Label: isoform j
- UniProtKB: A0A590UJK3 (UniProtKB/TrEMBL),   A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364468   ⟸   NM_001377539
- Peptide Label: isoform i
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364484   ⟸   NM_001377555
- Peptide Label: isoform p
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364474   ⟸   NM_001377545
- Peptide Label: isoform l
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364851   ⟸   NM_001377922
- Peptide Label: isoform t
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364470   ⟸   NM_001377541
- Peptide Label: isoform k
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364491   ⟸   NM_001377562
- Peptide Label: isoform bb
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364481   ⟸   NM_001377552
- Peptide Label: isoform o
- UniProtKB: H7C3M8 (UniProtKB/TrEMBL),   A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364480   ⟸   NM_001377551
- Peptide Label: isoform aa
- UniProtKB: A0A590UJS6 (UniProtKB/TrEMBL),   A0A994J558 (UniProtKB/TrEMBL),   A0A994J562 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364853   ⟸   NM_001377924
- Peptide Label: isoform v
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364471   ⟸   NM_001377542
- Peptide Label: isoform q
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364850   ⟸   NM_001377921
- Peptide Label: isoform s
- UniProtKB: H7C5G9 (UniProtKB/TrEMBL),   A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364478   ⟸   NM_001377549
- Peptide Label: isoform n
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364852   ⟸   NM_001377923
- Peptide Label: isoform u
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364488   ⟸   NM_001377559
- Peptide Label: isoform r
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364486   ⟸   NM_001377557
- Peptide Label: isoform c
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364854   ⟸   NM_001377925
- Peptide Label: isoform w
- UniProtKB: A0A5F9VB99 (UniProtKB/TrEMBL),   A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364856   ⟸   NM_001377927
- Peptide Label: isoform y
- UniProtKB: B7Z863 (UniProtKB/TrEMBL),   B7Z6C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364855   ⟸   NM_001377926
- Peptide Label: isoform x
- UniProtKB: B7Z6C7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364857   ⟸   NM_001377928
- Peptide Label: isoform z
Ensembl Acc Id: ENSP00000391886   ⟸   ENST00000438794
Ensembl Acc Id: ENSP00000419849   ⟸   ENST00000465203
Ensembl Acc Id: ENSP00000499345   ⟸   ENST00000662629
Ensembl Acc Id: ENSP00000295952   ⟸   ENST00000295952
Ensembl Acc Id: ENSP00000295951   ⟸   ENST00000295951
Ensembl Acc Id: ENSP00000398661   ⟸   ENST00000428312
Ensembl Acc Id: ENSP00000499727   ⟸   ENST00000664084
Ensembl Acc Id: ENSP00000418218   ⟸   ENST00000494088
Ensembl Acc Id: ENSP00000389978   ⟸   ENST00000416658
Ensembl Acc Id: ENSP00000412829   ⟸   ENST00000417128
Ensembl Acc Id: ENSP00000499603   ⟸   ENST00000667800
Ensembl Acc Id: ENSP00000499412   ⟸   ENST00000655012
Ensembl Acc Id: ENSP00000499567   ⟸   ENST00000657480
Ensembl Acc Id: ENSP00000499426   ⟸   ENST00000658689
Ensembl Acc Id: ENSP00000499553   ⟸   ENST00000670768
Ensembl Acc Id: ENSP00000412945   ⟸   ENST00000449503
Ensembl Acc Id: ENSP00000499241   ⟸   ENST00000659705
Ensembl Acc Id: ENSP00000499233   ⟸   ENST00000659926
Ensembl Acc Id: ENSP00000420703   ⟸   ENST00000460223
Ensembl Acc Id: ENSP00000499520   ⟸   ENST00000475055
Ensembl Acc Id: ENSP00000499458   ⟸   ENST00000671191
Ensembl Acc Id: ENSP00000373224   ⟸   ENST00000383718
RefSeq Acc Id: XP_047304845   ⟸   XM_047448889
- Peptide Label: isoform X7
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304848   ⟸   XM_047448892
- Peptide Label: isoform X20
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304846   ⟸   XM_047448890
- Peptide Label: isoform X11
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304849   ⟸   XM_047448893
- Peptide Label: isoform X22
- UniProtKB: A0A994J5K8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304844   ⟸   XM_047448888
- Peptide Label: isoform X2
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304847   ⟸   XM_047448891
- Peptide Label: isoform X15
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304851   ⟸   XM_047448895
- Peptide Label: isoform X25
- UniProtKB: A0A590UJ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304852   ⟸   XM_047448896
- Peptide Label: isoform X26
- UniProtKB: A0A590UJ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304850   ⟸   XM_047448894
- Peptide Label: isoform X23
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000516152   ⟸   ENST00000705653
Ensembl Acc Id: ENSP00000516146   ⟸   ENST00000705630
Ensembl Acc Id: ENSP00000516150   ⟸   ENST00000705651
Ensembl Acc Id: ENSP00000516149   ⟸   ENST00000705650
Ensembl Acc Id: ENSP00000516144   ⟸   ENST00000705628
Ensembl Acc Id: ENSP00000516148   ⟸   ENST00000705649
Ensembl Acc Id: ENSP00000516151   ⟸   ENST00000705652
Ensembl Acc Id: ENSP00000516145   ⟸   ENST00000705629
Ensembl Acc Id: ENSP00000516147   ⟸   ENST00000705648
RefSeq Acc Id: XP_054203775   ⟸   XM_054347800
- Peptide Label: isoform X1
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203786   ⟸   XM_054347811
- Peptide Label: isoform X12
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203780   ⟸   XM_054347805
- Peptide Label: isoform X6
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203777   ⟸   XM_054347802
- Peptide Label: isoform X3
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203790   ⟸   XM_054347815
- Peptide Label: isoform X16
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203783   ⟸   XM_054347808
- Peptide Label: isoform X9
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL),   A0A994J562 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203793   ⟸   XM_054347818
- Peptide Label: isoform X19
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203778   ⟸   XM_054347803
- Peptide Label: isoform X4
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203784   ⟸   XM_054347809
- Peptide Label: isoform X10
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203782   ⟸   XM_054347807
- Peptide Label: isoform X8
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203788   ⟸   XM_054347813
- Peptide Label: isoform X14
- UniProtKB: A0A994J562 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203795   ⟸   XM_054347820
- Peptide Label: isoform X21
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203787   ⟸   XM_054347812
- Peptide Label: isoform X13
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203781   ⟸   XM_054347806
- Peptide Label: isoform X7
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203791   ⟸   XM_054347816
- Peptide Label: isoform X17
- UniProtKB: A0A994J5K8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203794   ⟸   XM_054347819
- Peptide Label: isoform X20
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203779   ⟸   XM_054347804
- Peptide Label: isoform X5
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203785   ⟸   XM_054347810
- Peptide Label: isoform X11
- UniProtKB: A0A994J558 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203792   ⟸   XM_054347817
- Peptide Label: isoform X18
- UniProtKB: A0A590UJP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203796   ⟸   XM_054347821
- Peptide Label: isoform X22
- UniProtKB: A0A994J5K8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203776   ⟸   XM_054347801
- Peptide Label: isoform X2
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203789   ⟸   XM_054347814
- Peptide Label: isoform X15
- UniProtKB: A0A994J4X9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203798   ⟸   XM_054347823
- Peptide Label: isoform X24
- UniProtKB: A0A590UJU9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203799   ⟸   XM_054347824
- Peptide Label: isoform X25
- UniProtKB: A0A590UJ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203800   ⟸   XM_054347825
- Peptide Label: isoform X26
- UniProtKB: A0A590UJ16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203797   ⟸   XM_054347822
- Peptide Label: isoform X23
- UniProtKB: A0A994J7V1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203801   ⟸   XM_054347826
- Peptide Label: isoform X27
- UniProtKB: B7Z964 (UniProtKB/TrEMBL),   H7BZK0 (UniProtKB/TrEMBL)
Protein Domains
FHA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14BN4-F1-model_v2 AlphaFold Q14BN4 1-828 view protein structure

Promoters
RGD ID:6801705
Promoter ID:HG_KWN:45365
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000295951
Position:
Human AssemblyChrPosition (strand)Source
Build 36357,716,176 - 57,717,107 (+)MPROMDB
RGD ID:6800940
Promoter ID:HG_KWN:45366
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000383719,   NM_007159,   UC003DJC.1,   UC003DJE.1,   UC003DJF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36357,717,116 - 57,717,922 (+)MPROMDB
RGD ID:6864802
Promoter ID:EPDNEW_H5566
Type:initiation region
Name:SLMAP_2
Description:sarcolemma associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5567  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,864,585 - 57,864,645EPDNEW
RGD ID:6864804
Promoter ID:EPDNEW_H5567
Type:initiation region
Name:SLMAP_1
Description:sarcolemma associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5566  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,890,033 - 57,890,093EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16643 AgrOrtholog
COSMIC SLMAP COSMIC
Ensembl Genes ENSG00000163681 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295951 ENTREZGENE
  ENST00000295951.7 UniProtKB/Swiss-Prot
  ENST00000295952.7 UniProtKB/Swiss-Prot
  ENST00000383718 ENTREZGENE
  ENST00000383718.7 UniProtKB/Swiss-Prot
  ENST00000416658.5 UniProtKB/TrEMBL
  ENST00000417128 ENTREZGENE
  ENST00000417128.7 UniProtKB/TrEMBL
  ENST00000428312 ENTREZGENE
  ENST00000428312.6 UniProtKB/TrEMBL
  ENST00000438794 ENTREZGENE
  ENST00000438794.6 UniProtKB/TrEMBL
  ENST00000449503 ENTREZGENE
  ENST00000449503.6 UniProtKB/Swiss-Prot
  ENST00000460223.1 UniProtKB/TrEMBL
  ENST00000465203 ENTREZGENE
  ENST00000465203.6 UniProtKB/TrEMBL
  ENST00000475055 ENTREZGENE
  ENST00000475055.2 UniProtKB/TrEMBL
  ENST00000494088 ENTREZGENE
  ENST00000494088.6 UniProtKB/Swiss-Prot
  ENST00000655012.1 UniProtKB/TrEMBL
  ENST00000657480.1 UniProtKB/TrEMBL
  ENST00000658689.1 UniProtKB/TrEMBL
  ENST00000659705 ENTREZGENE
  ENST00000659705.1 UniProtKB/Swiss-Prot
  ENST00000659926 ENTREZGENE
  ENST00000659926.1 UniProtKB/TrEMBL
  ENST00000662629.1 UniProtKB/TrEMBL
  ENST00000664084.1 UniProtKB/TrEMBL
  ENST00000667800.1 UniProtKB/TrEMBL
  ENST00000670768 ENTREZGENE
  ENST00000670768.2 UniProtKB/TrEMBL
  ENST00000671191 ENTREZGENE
  ENST00000671191.1 UniProtKB/TrEMBL
  ENST00000705628 ENTREZGENE
  ENST00000705628.1 UniProtKB/TrEMBL
  ENST00000705629 ENTREZGENE
  ENST00000705629.1 UniProtKB/TrEMBL
  ENST00000705630.1 UniProtKB/TrEMBL
  ENST00000705648 ENTREZGENE
  ENST00000705648.1 UniProtKB/TrEMBL
  ENST00000705649 ENTREZGENE
  ENST00000705649.1 UniProtKB/TrEMBL
  ENST00000705650 ENTREZGENE
  ENST00000705650.1 UniProtKB/TrEMBL
  ENST00000705651 ENTREZGENE
  ENST00000705651.1 UniProtKB/TrEMBL
  ENST00000705652 ENTREZGENE
  ENST00000705652.1 UniProtKB/TrEMBL
  ENST00000705653.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.200.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.3110 UniProtKB/TrEMBL
GTEx ENSG00000163681 GTEx
HGNC ID HGNC:16643 ENTREZGENE
Human Proteome Map SLMAP Human Proteome Map
InterPro Cent_Immune-Sig_Mod UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FHA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7871 UniProtKB/Swiss-Prot
NCBI Gene 7871 ENTREZGENE
OMIM 602701 OMIM
PANTHER CENTROSOMAL PROTEIN OF 170 KDA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15715:SF22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38179 PharmGKB
PROSITE FHA_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJ16 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJ91_HUMAN UniProtKB/TrEMBL
  A0A590UJG7_HUMAN UniProtKB/TrEMBL
  A0A590UJH8_HUMAN UniProtKB/TrEMBL
  A0A590UJK3 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJP6 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJS6 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJT5_HUMAN UniProtKB/TrEMBL
  A0A590UJU9 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UK66_HUMAN UniProtKB/TrEMBL
  A0A5F9VB99 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J4X6_HUMAN UniProtKB/TrEMBL
  A0A994J4X9 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J558 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J562 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J5K5 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J5K8 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J7G6_HUMAN UniProtKB/TrEMBL
  A0A994J7U9_HUMAN UniProtKB/TrEMBL
  A0A994J7V1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6C7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z863 ENTREZGENE, UniProtKB/TrEMBL
  B7Z964 ENTREZGENE, UniProtKB/TrEMBL
  H7BZK0 ENTREZGENE, UniProtKB/TrEMBL
  H7BZW9_HUMAN UniProtKB/TrEMBL
  H7C3M8 ENTREZGENE, UniProtKB/TrEMBL
  H7C5G9 ENTREZGENE, UniProtKB/TrEMBL
  H7C5S2_HUMAN UniProtKB/TrEMBL
  Q14BN4 ENTREZGENE
  Q14C95 ENTREZGENE
  Q6AI54 ENTREZGENE
  Q6UXC9 ENTREZGENE
  Q6ZVQ8 ENTREZGENE
  Q8NCW9 ENTREZGENE
  Q9H297 ENTREZGENE
  Q9HCH1 ENTREZGENE
  Q9Y681 ENTREZGENE
  SLMAP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14C95 UniProtKB/Swiss-Prot
  Q6AI54 UniProtKB/Swiss-Prot
  Q6UXC9 UniProtKB/Swiss-Prot
  Q6ZVQ8 UniProtKB/Swiss-Prot
  Q8NCW9 UniProtKB/Swiss-Prot
  Q9H297 UniProtKB/Swiss-Prot
  Q9HCH1 UniProtKB/Swiss-Prot
  Q9Y681 UniProtKB/Swiss-Prot