SLC7A14 (solute carrier family 7 member 14) - Rat Genome Database

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Gene: SLC7A14 (solute carrier family 7 member 14) Homo sapiens
Analyze
Symbol: SLC7A14
Name: solute carrier family 7 member 14
RGD ID: 1605648
HGNC Page HGNC:29326
Description: Predicted to enable gamma-aminobutyric acid transmembrane transporter activity. Predicted to be involved in gamma-aminobutyric acid import. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in retinitis pigmentosa 68.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ37228; gamma-aminobutyric acid transporter SLC7A14; KIAA1613; PPP1R142; probable cationic amino acid transporter; RP68; solute carrier family 7 (cationic amino acid transporter, y+ system), member 14; solute carrier family 7 (orphan transporter), member 14; solute carrier family 7, member 14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383170,459,548 - 170,586,075 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3170,459,548 - 170,586,075 (-)EnsemblGRCh38hg38GRCh38
GRCh373170,177,336 - 170,303,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363171,667,255 - 171,786,552 (-)NCBINCBI36Build 36hg18NCBI36
Celera3168,576,516 - 168,703,058 (-)NCBICelera
Cytogenetic Map3q26.2NCBI
HuRef3167,547,022 - 167,673,468 (-)NCBIHuRef
CHM1_13170,140,494 - 170,267,053 (-)NCBICHM1_1
T2T-CHM13v2.03173,243,852 - 173,370,405 (-)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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10997877   PMID:12477932   PMID:14702039   PMID:16344560   PMID:19389623   PMID:20301590   PMID:20379614   PMID:21873635   PMID:22787143   PMID:24670872   PMID:27028480   PMID:30631154  
PMID:30924391   PMID:32296183   PMID:33961781   PMID:35394837  


Genomics

Comparative Map Data
SLC7A14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383170,459,548 - 170,586,075 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3170,459,548 - 170,586,075 (-)EnsemblGRCh38hg38GRCh38
GRCh373170,177,336 - 170,303,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363171,667,255 - 171,786,552 (-)NCBINCBI36Build 36hg18NCBI36
Celera3168,576,516 - 168,703,058 (-)NCBICelera
Cytogenetic Map3q26.2NCBI
HuRef3167,547,022 - 167,673,468 (-)NCBIHuRef
CHM1_13170,140,494 - 170,267,053 (-)NCBICHM1_1
T2T-CHM13v2.03173,243,852 - 173,370,405 (-)NCBIT2T-CHM13v2.0
Slc7a14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39331,257,003 - 31,364,712 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl331,257,007 - 31,364,527 (-)EnsemblGRCm39 Ensembl
GRCm38331,202,854 - 31,310,567 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl331,202,858 - 31,310,378 (-)EnsemblGRCm38mm10GRCm38
MGSCv37331,101,776 - 31,209,241 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36331,397,101 - 31,501,173 (-)NCBIMGSCv36mm8
Celera331,118,087 - 31,225,413 (-)NCBICelera
Cytogenetic Map3A3NCBI
cM Map315.17NCBI
Slc7a14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82113,993,781 - 114,099,810 (+)NCBIGRCr8
mRatBN7.22112,065,286 - 112,171,319 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2112,065,286 - 112,171,313 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2118,713,850 - 118,819,501 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02116,826,419 - 116,932,057 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02111,535,164 - 111,641,542 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02115,678,344 - 115,788,688 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2115,678,344 - 115,788,687 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02135,373,151 - 135,484,827 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42116,462,113 - 116,579,876 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2107,253,260 - 107,359,313 (+)NCBICelera
Cytogenetic Map2q24NCBI
Slc7a14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955420624,929 - 732,282 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955420624,929 - 732,108 (-)NCBIChiLan1.0ChiLan1.0
SLC7A14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22168,354,461 - 168,479,884 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13168,359,185 - 168,484,607 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03167,473,566 - 167,599,271 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13175,662,571 - 175,787,309 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3175,662,571 - 175,728,590 (-)Ensemblpanpan1.1panPan2
SLC7A14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13434,953,442 - 35,065,447 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3434,958,156 - 35,012,544 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3443,965,831 - 44,077,781 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03435,036,711 - 35,147,854 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3435,043,064 - 35,147,837 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13434,978,545 - 35,090,251 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03434,949,830 - 35,061,425 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03435,211,838 - 35,323,499 (-)NCBIUU_Cfam_GSD_1.0
Slc7a14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602101,571,562 - 101,683,388 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365931,991,491 - 2,044,329 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365931,938,392 - 2,045,639 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13109,115,006 - 109,231,433 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113109,108,461 - 109,231,712 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213117,996,231 - 118,112,752 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC7A14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11518,842,801 - 18,965,673 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1518,842,732 - 18,958,180 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606327,618,718 - 27,741,774 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473048,515,184 - 48,579,897 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473048,514,222 - 48,641,555 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC7A14
424 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020949.3(SLC7A14):c.1167C>T (p.Ile389=) single nucleotide variant not provided [RCV002726193] Chr3:170481115 [GRCh38]
Chr3:170198904 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) single nucleotide variant Retinitis pigmentosa 68 [RCV000114374]|not provided [RCV000890766] Chr3:170483441 [GRCh38]
Chr3:170201230 [GRCh37]
Chr3:3q26.2
pathogenic|benign|likely benign
NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val) single nucleotide variant Retinitis pigmentosa 68 [RCV000114375] Chr3:170467249 [GRCh38]
Chr3:170185037 [GRCh37]
Chr3:3q26.2
pathogenic
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) single nucleotide variant Retinitis pigmentosa 68 [RCV000114376]|not provided [RCV000902663] Chr3:170480891 [GRCh38]
Chr3:170198680 [GRCh37]
Chr3:3q26.2
pathogenic|benign|conflicting interpretations of pathogenicity
NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val) single nucleotide variant Retinitis pigmentosa 68 [RCV000114377] Chr3:170501255 [GRCh38]
Chr3:170219044 [GRCh37]
Chr3:3q26.2
pathogenic
NM_020949.2(SLC7A14):c.*6072G>A single nucleotide variant Lung cancer [RCV000093269] Chr3:170460983 [GRCh38]
Chr3:170178771 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.2(SLC7A14):c.1116-727C>G single nucleotide variant Lung cancer [RCV000093270] Chr3:170481893 [GRCh38]
Chr3:170199682 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_020949.3(SLC7A14):c.448G>A (p.Gly150Arg) single nucleotide variant not provided [RCV002572775] Chr3:170501202 [GRCh38]
Chr3:170218991 [GRCh37]
Chr3:171701685 [NCBI36]
Chr3:3q26.2
uncertain significance|not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 copy number gain See cases [RCV000136642] Chr3:166831737..170631211 [GRCh38]
Chr3:166549525..170349000 [GRCh37]
Chr3:168032219..171831694 [NCBI36]
Chr3:3q26.1-26.2
uncertain significance
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_020949.3(SLC7A14):c.2292T>A (p.Asp764Glu) single nucleotide variant not provided [RCV001367503] Chr3:170467079 [GRCh38]
Chr3:170184867 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_020949.3(SLC7A14):c.541+3G>A single nucleotide variant not provided [RCV001868038]|not specified [RCV000605851] Chr3:170501106 [GRCh38]
Chr3:170218895 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV001051914] Chr3:170498840 [GRCh38]
Chr3:170216629 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_020949.3(SLC7A14):c.1258A>C (p.Thr420Pro) single nucleotide variant Inborn genetic diseases [RCV003256346] Chr3:170481024 [GRCh38]
Chr3:170198813 [GRCh37]
Chr3:3q26.2
uncertain significance
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_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe) single nucleotide variant Retinitis pigmentosa 68 [RCV000714685]|not provided [RCV001862003] Chr3:170481036 [GRCh38]
Chr3:170198825 [GRCh37]
Chr3:3q26.2
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
NM_020949.3(SLC7A14):c.747C>T (p.His249=) single nucleotide variant not provided [RCV000895354] Chr3:170498679 [GRCh38]
Chr3:170216468 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2290G>T (p.Asp764Tyr) single nucleotide variant not provided [RCV001057923] Chr3:170467081 [GRCh38]
Chr3:170184869 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.615G>A (p.Leu205=) single nucleotide variant Retinal dystrophy [RCV001073533]|not provided [RCV000883730] Chr3:170498811 [GRCh38]
Chr3:170216600 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.1890T>G (p.Pro630=) single nucleotide variant not provided [RCV000899769]|not specified [RCV001701243] Chr3:170480392 [GRCh38]
Chr3:170198181 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1083T>A (p.Ile361=) single nucleotide variant not provided [RCV000881128] Chr3:170483346 [GRCh38]
Chr3:170201135 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.786C>G (p.Phe262Leu) single nucleotide variant Inborn genetic diseases [RCV002553107]|not provided [RCV001044054] Chr3:170486342 [GRCh38]
Chr3:170204131 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) single nucleotide variant Inborn genetic diseases [RCV002553224]|Retinitis pigmentosa 68 [RCV002481959]|not provided [RCV001050504]|not specified [RCV002307665] Chr3:170481114 [GRCh38]
Chr3:170198903 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1976C>T (p.Ala659Val) single nucleotide variant not provided [RCV001071378] Chr3:170480306 [GRCh38]
Chr3:170198095 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1726A>G (p.Met576Val) single nucleotide variant not provided [RCV001051380] Chr3:170480556 [GRCh38]
Chr3:170198345 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.176T>C (p.Ile59Thr) single nucleotide variant not provided [RCV001046322] Chr3:170526761 [GRCh38]
Chr3:170244550 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1666C>T (p.Arg556Trp) single nucleotide variant Retinal dystrophy [RCV001073529]|not provided [RCV002554667] Chr3:170480616 [GRCh38]
Chr3:170198405 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1540G>A (p.Val514Met) single nucleotide variant not provided [RCV001047691] Chr3:170480742 [GRCh38]
Chr3:170198531 [GRCh37]
Chr3:3q26.2
benign|uncertain significance
NM_020949.3(SLC7A14):c.1516G>A (p.Val506Ile) single nucleotide variant Inborn genetic diseases [RCV003160214]|not provided [RCV001036438] Chr3:170480766 [GRCh38]
Chr3:170198555 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1929C>T (p.Asn643=) single nucleotide variant not provided [RCV000903940] Chr3:170480353 [GRCh38]
Chr3:170198142 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1551C>T (p.Thr517=) single nucleotide variant not provided [RCV000929434] Chr3:170480731 [GRCh38]
Chr3:170198520 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2115G>A (p.Glu705=) single nucleotide variant not provided [RCV000980896] Chr3:170467256 [GRCh38]
Chr3:170185044 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.714G>C (p.Gly238=) single nucleotide variant not provided [RCV000916552] Chr3:170498712 [GRCh38]
Chr3:170216501 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2226G>A (p.Arg742=) single nucleotide variant not provided [RCV000961039]|not specified [RCV001699482] Chr3:170467145 [GRCh38]
Chr3:170184933 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_020949.3(SLC7A14):c.2277C>T (p.Ala759=) single nucleotide variant not provided [RCV000916399] Chr3:170467094 [GRCh38]
Chr3:170184882 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys) single nucleotide variant not provided [RCV000894729] Chr3:170467288 [GRCh38]
Chr3:170185076 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg) single nucleotide variant Retinitis pigmentosa 68 [RCV002503013]|not provided [RCV000963611] Chr3:170467207 [GRCh38]
Chr3:170184995 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_020949.3(SLC7A14):c.1747A>G (p.Ile583Val) single nucleotide variant not provided [RCV000998157] Chr3:170480535 [GRCh38]
Chr3:170198324 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1019T>C (p.Ile340Thr) single nucleotide variant not provided [RCV001054621] Chr3:170483410 [GRCh38]
Chr3:170201199 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1129G>A (p.Val377Ile) single nucleotide variant not provided [RCV000963137] Chr3:170481153 [GRCh38]
Chr3:170198942 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1067C>T (p.Pro356Leu) single nucleotide variant not provided [RCV001062740] Chr3:170483362 [GRCh38]
Chr3:170201151 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1360G>A (p.Gly454Ser) single nucleotide variant not provided [RCV001213849] Chr3:170480922 [GRCh38]
Chr3:170198711 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1757G>A (p.Gly586Asp) single nucleotide variant not provided [RCV001060339] Chr3:170480525 [GRCh38]
Chr3:170198314 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met) single nucleotide variant Inborn genetic diseases [RCV002563865]|not provided [RCV001236595] Chr3:170480577 [GRCh38]
Chr3:170198366 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1970G>A (p.Arg657Gln) single nucleotide variant not provided [RCV001239157] Chr3:170480312 [GRCh38]
Chr3:170198101 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.712G>A (p.Gly238Arg) single nucleotide variant Inborn genetic diseases [RCV002563045]|not provided [RCV001223860] Chr3:170498714 [GRCh38]
Chr3:170216503 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2297T>C (p.Leu766Ser) single nucleotide variant not provided [RCV001237977] Chr3:170467074 [GRCh38]
Chr3:170184862 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1150C>T (p.Pro384Ser) single nucleotide variant not provided [RCV001241570] Chr3:170481132 [GRCh38]
Chr3:170198921 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1013T>C (p.Val338Ala) single nucleotide variant not provided [RCV001240644] Chr3:170483416 [GRCh38]
Chr3:170201205 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1114A>G (p.Arg372Gly) single nucleotide variant not provided [RCV001239827] Chr3:170483315 [GRCh38]
Chr3:170201104 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.119G>A (p.Gly40Glu) single nucleotide variant not provided [RCV001232697] Chr3:170526818 [GRCh38]
Chr3:170244607 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_020949.3(SLC7A14):c.1640G>A (p.Arg547Gln) single nucleotide variant not provided [RCV003106477] Chr3:170480642 [GRCh38]
Chr3:170198431 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1769T>A (p.Ile590Asn) single nucleotide variant not provided [RCV002001754] Chr3:170480513 [GRCh38]
Chr3:170198302 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=) single nucleotide variant not provided [RCV000904833] Chr3:170480578 [GRCh38]
Chr3:170198367 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1128C>T (p.His376=) single nucleotide variant not provided [RCV000887866] Chr3:170481154 [GRCh38]
Chr3:170198943 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile) single nucleotide variant not provided [RCV000885980] Chr3:170486307 [GRCh38]
Chr3:170204096 [GRCh37]
Chr3:3q26.2
likely benign|conflicting interpretations of pathogenicity
NM_020949.3(SLC7A14):c.1172C>T (p.Ser391Leu) single nucleotide variant not provided [RCV000907408] Chr3:170481110 [GRCh38]
Chr3:170198899 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.480A>C (p.Ser160=) single nucleotide variant not provided [RCV000897349] Chr3:170501170 [GRCh38]
Chr3:170218959 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1116-4C>G single nucleotide variant not provided [RCV000955323]|not specified [RCV001699476] Chr3:170481170 [GRCh38]
Chr3:170198959 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_020949.3(SLC7A14):c.837G>A (p.Lys279=) single nucleotide variant not provided [RCV000910361] Chr3:170486291 [GRCh38]
Chr3:170204080 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.855C>T (p.Ile285=) single nucleotide variant not provided [RCV000904306] Chr3:170486273 [GRCh38]
Chr3:170204062 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.789C>T (p.Tyr263=) single nucleotide variant not provided [RCV000973350] Chr3:170486339 [GRCh38]
Chr3:170204128 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.907-6T>C single nucleotide variant not provided [RCV000907566] Chr3:170483528 [GRCh38]
Chr3:170201317 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1539C>T (p.Thr513=) single nucleotide variant not provided [RCV000896164] Chr3:170480743 [GRCh38]
Chr3:170198532 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1534G>A (p.Gly512Ser) single nucleotide variant not provided [RCV001225694] Chr3:170480748 [GRCh38]
Chr3:170198537 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2108C>T (p.Ser703Leu) single nucleotide variant not provided [RCV001207331] Chr3:170467263 [GRCh38]
Chr3:170185051 [GRCh37]
Chr3:3q26.2
conflicting interpretations of pathogenicity|uncertain significance
NM_020949.3(SLC7A14):c.1726A>T (p.Met576Leu) single nucleotide variant not provided [RCV001242537] Chr3:170480556 [GRCh38]
Chr3:170198345 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.35G>A (p.Arg12Gln) single nucleotide variant not provided [RCV001236173] Chr3:170526902 [GRCh38]
Chr3:170244691 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.838A>G (p.Asn280Asp) single nucleotide variant not provided [RCV001244726] Chr3:170486290 [GRCh38]
Chr3:170204079 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1679C>T (p.Ala560Val) single nucleotide variant not provided [RCV001240268] Chr3:170480603 [GRCh38]
Chr3:170198392 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2092G>A (p.Val698Met) single nucleotide variant Inborn genetic diseases [RCV002568622]|not provided [RCV001245489] Chr3:170467279 [GRCh38]
Chr3:170185067 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.795C>T (p.Phe265=) single nucleotide variant not provided [RCV000890093] Chr3:170486333 [GRCh38]
Chr3:170204122 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1533C>T (p.Tyr511=) single nucleotide variant not provided [RCV000956155] Chr3:170480749 [GRCh38]
Chr3:170198538 [GRCh37]
Chr3:3q26.2
benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_020949.3(SLC7A14):c.1714C>A (p.Leu572Ile) single nucleotide variant not provided [RCV001054100] Chr3:170480568 [GRCh38]
Chr3:170198357 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1565C>T (p.Ala522Val) single nucleotide variant Inborn genetic diseases [RCV003259073]|not provided [RCV001060956] Chr3:170480717 [GRCh38]
Chr3:170198506 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.691G>A (p.Ala231Thr) single nucleotide variant not provided [RCV001064830] Chr3:170498735 [GRCh38]
Chr3:170216524 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1994-3C>T single nucleotide variant not provided [RCV001057629] Chr3:170467380 [GRCh38]
Chr3:170185168 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1006T>C (p.Phe336Leu) single nucleotide variant not provided [RCV001058243] Chr3:170483423 [GRCh38]
Chr3:170201212 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.767A>G (p.Gln256Arg) single nucleotide variant not provided [RCV001060455] Chr3:170486361 [GRCh38]
Chr3:170204150 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1168G>A (p.Val390Met) single nucleotide variant not provided [RCV001066621] Chr3:170481114 [GRCh38]
Chr3:170198903 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1559T>C (p.Ile520Thr) single nucleotide variant not provided [RCV001232234] Chr3:170480723 [GRCh38]
Chr3:170198512 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.632T>C (p.Ile211Thr) single nucleotide variant not provided [RCV001247002] Chr3:170498794 [GRCh38]
Chr3:170216583 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.1796T>C (p.Leu599Pro) single nucleotide variant not provided [RCV001207574] Chr3:170480486 [GRCh38]
Chr3:170198275 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1708C>T (p.Leu570Phe) single nucleotide variant not provided [RCV001048994] Chr3:170480574 [GRCh38]
Chr3:170198363 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1667G>A (p.Arg556Gln) single nucleotide variant not provided [RCV001232285] Chr3:170480615 [GRCh38]
Chr3:170198404 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1073C>T (p.Pro358Leu) single nucleotide variant Inborn genetic diseases [RCV002563170]|not provided [RCV001229745] Chr3:170483356 [GRCh38]
Chr3:170201145 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1850A>C (p.Gln617Pro) single nucleotide variant not provided [RCV001230176] Chr3:170480432 [GRCh38]
Chr3:170198221 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1548_1550dup (p.Thr518dup) duplication not provided [RCV001049787] Chr3:170480731..170480732 [GRCh38]
Chr3:170198520..170198521 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.455G>T (p.Ser152Ile) single nucleotide variant not provided [RCV001208637] Chr3:170501195 [GRCh38]
Chr3:170218984 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.725C>T (p.Ala242Val) single nucleotide variant not provided [RCV001044565] Chr3:170498701 [GRCh38]
Chr3:170216490 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1570G>T (p.Glu524Ter) single nucleotide variant not provided [RCV001044912] Chr3:170480712 [GRCh38]
Chr3:170198501 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.559T>C (p.Tyr187His) single nucleotide variant not provided [RCV001037189] Chr3:170498867 [GRCh38]
Chr3:170216656 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.983C>A (p.Ala328Asp) single nucleotide variant Inborn genetic diseases [RCV002563252]|not provided [RCV001235376] Chr3:170483446 [GRCh38]
Chr3:170201235 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.118G>A (p.Gly40Arg) single nucleotide variant Inborn genetic diseases [RCV003283879]|not provided [RCV001038002] Chr3:170526819 [GRCh38]
Chr3:170244608 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.444G>A (p.Ala148=) single nucleotide variant not provided [RCV001235690] Chr3:170501206 [GRCh38]
Chr3:170218995 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.2282T>C (p.Ile761Thr) single nucleotide variant Inborn genetic diseases [RCV002561825]|not provided [RCV001213765] Chr3:170467089 [GRCh38]
Chr3:170184877 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1008C>G (p.Phe336Leu) single nucleotide variant not provided [RCV001037712] Chr3:170483421 [GRCh38]
Chr3:170201210 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.83G>A (p.Arg28His) single nucleotide variant not provided [RCV001232800] Chr3:170526854 [GRCh38]
Chr3:170244643 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.191G>T (p.Gly64Val) single nucleotide variant not provided [RCV001349382] Chr3:170526746 [GRCh38]
Chr3:170244535 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1727T>A (p.Met576Lys) single nucleotide variant not provided [RCV001302999] Chr3:170480555 [GRCh38]
Chr3:170198344 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.380T>A (p.Val127Asp) single nucleotide variant Inborn genetic diseases [RCV002541929]|not provided [RCV001300538] Chr3:170501270 [GRCh38]
Chr3:170219059 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1272_1275del (p.Cys425fs) microsatellite not provided [RCV001308410] Chr3:170481007..170481010 [GRCh38]
Chr3:170198796..170198799 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.116C>T (p.Thr39Ile) single nucleotide variant not provided [RCV001308539] Chr3:170526821 [GRCh38]
Chr3:170244610 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2223C>T (p.Gly741=) single nucleotide variant not provided [RCV001339049] Chr3:170467148 [GRCh38]
Chr3:170184936 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.590T>C (p.Val197Ala) single nucleotide variant not provided [RCV001299413] Chr3:170498836 [GRCh38]
Chr3:170216625 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2306C>G (p.Ser769Cys) single nucleotide variant not provided [RCV001327670] Chr3:170467065 [GRCh38]
Chr3:170184853 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1700T>A (p.Ile567Asn) single nucleotide variant not provided [RCV001340433] Chr3:170480582 [GRCh38]
Chr3:170198371 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.700T>G (p.Phe234Val) single nucleotide variant not provided [RCV001343091] Chr3:170498726 [GRCh38]
Chr3:170216515 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.910A>T (p.Ser304Cys) single nucleotide variant not provided [RCV001300037] Chr3:170483519 [GRCh38]
Chr3:170201308 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2316G>C (p.Ter772Tyr) single nucleotide variant not provided [RCV001306807] Chr3:170467055 [GRCh38]
Chr3:170184843 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2245AGCAAA[1] (p.749SK[1]) microsatellite not provided [RCV001349214] Chr3:170467115..170467120 [GRCh38]
Chr3:170184903..170184908 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1533C>A (p.Tyr511Ter) single nucleotide variant not provided [RCV002021193] Chr3:170480749 [GRCh38]
Chr3:170198538 [GRCh37]
Chr3:3q26.2
pathogenic|uncertain significance
NM_020949.3(SLC7A14):c.520G>A (p.Val174Met) single nucleotide variant not provided [RCV001340753] Chr3:170501130 [GRCh38]
Chr3:170218919 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.134A>G (p.His45Arg) single nucleotide variant not provided [RCV001305211] Chr3:170526803 [GRCh38]
Chr3:170244592 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1940T>C (p.Met647Thr) single nucleotide variant not provided [RCV001305966] Chr3:170480342 [GRCh38]
Chr3:170198131 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.331C>T (p.Arg111Ter) single nucleotide variant not provided [RCV001349813] Chr3:170501319 [GRCh38]
Chr3:170219108 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.595G>A (p.Val199Met) single nucleotide variant not provided [RCV001296765] Chr3:170498831 [GRCh38]
Chr3:170216620 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2143G>A (p.Glu715Lys) single nucleotide variant not provided [RCV001362870] Chr3:170467228 [GRCh38]
Chr3:170185016 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV001313727] Chr3:170483475 [GRCh38]
Chr3:170201264 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.1304G>A (p.Ser435Asn) single nucleotide variant not provided [RCV001326306] Chr3:170480978 [GRCh38]
Chr3:170198767 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1615C>T (p.Pro539Ser) single nucleotide variant not provided [RCV001321855] Chr3:170480667 [GRCh38]
Chr3:170198456 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1291T>C (p.Tyr431His) single nucleotide variant not provided [RCV001372225] Chr3:170480991 [GRCh38]
Chr3:170198780 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1591A>G (p.Ile531Val) single nucleotide variant not provided [RCV001373965] Chr3:170480691 [GRCh38]
Chr3:170198480 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.983C>G (p.Ala328Gly) single nucleotide variant not provided [RCV001297428] Chr3:170483446 [GRCh38]
Chr3:170201235 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.259G>A (p.Val87Ile) single nucleotide variant not provided [RCV001320543] Chr3:170526678 [GRCh38]
Chr3:170244467 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2151GGA[1] (p.Glu718del) microsatellite not provided [RCV001346187] Chr3:170467215..170467217 [GRCh38]
Chr3:170185003..170185005 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1762G>C (p.Asp588His) single nucleotide variant not provided [RCV001361582] Chr3:170480520 [GRCh38]
Chr3:170198309 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1115+8C>G single nucleotide variant not provided [RCV001347788] Chr3:170483306 [GRCh38]
Chr3:170201095 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.113G>C (p.Gly38Ala) single nucleotide variant not provided [RCV001326994] Chr3:170526824 [GRCh38]
Chr3:170244613 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.31C>T (p.Arg11Trp) single nucleotide variant not provided [RCV001321277] Chr3:170526906 [GRCh38]
Chr3:170244695 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2083C>A (p.Arg695Ser) single nucleotide variant not provided [RCV001317508] Chr3:170467288 [GRCh38]
Chr3:170185076 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1240G>A (p.Gly414Ser) single nucleotide variant not provided [RCV001345623] Chr3:170481042 [GRCh38]
Chr3:170198831 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.246G>A (p.Met82Ile) single nucleotide variant not provided [RCV001362543] Chr3:170526691 [GRCh38]
Chr3:170244480 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.953C>T (p.Thr318Met) single nucleotide variant Inborn genetic diseases [RCV002548473]|not provided [RCV001350803] Chr3:170483476 [GRCh38]
Chr3:170201265 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.136G>A (p.Gly46Arg) single nucleotide variant not provided [RCV001360378] Chr3:170526801 [GRCh38]
Chr3:170244590 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2139G>A (p.Glu713=) single nucleotide variant not provided [RCV001412381] Chr3:170467232 [GRCh38]
Chr3:170185020 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1818G>A (p.Leu606=) single nucleotide variant not provided [RCV001396095] Chr3:170480464 [GRCh38]
Chr3:170198253 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.541+5G>C single nucleotide variant not provided [RCV001366927] Chr3:170501104 [GRCh38]
Chr3:170218893 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1884G>T (p.Met628Ile) single nucleotide variant not provided [RCV001368523] Chr3:170480398 [GRCh38]
Chr3:170198187 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.275T>C (p.Ile92Thr) single nucleotide variant not provided [RCV001351504] Chr3:170526662 [GRCh38]
Chr3:170244451 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1768A>C (p.Ile590Leu) single nucleotide variant not provided [RCV001306113] Chr3:170480514 [GRCh38]
Chr3:170198303 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1796T>G (p.Leu599Arg) single nucleotide variant not provided [RCV001352573] Chr3:170480486 [GRCh38]
Chr3:170198275 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.157C>G (p.Leu53Val) single nucleotide variant not provided [RCV001361022] Chr3:170526780 [GRCh38]
Chr3:170244569 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1244C>T (p.Thr415Met) single nucleotide variant not provided [RCV001339273] Chr3:170481038 [GRCh38]
Chr3:170198827 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.639C>A (p.Phe213Leu) single nucleotide variant not provided [RCV001312806] Chr3:170498787 [GRCh38]
Chr3:170216576 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1102G>A (p.Gly368Arg) single nucleotide variant not provided [RCV001317423] Chr3:170483327 [GRCh38]
Chr3:170201116 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=) single nucleotide variant Retinitis pigmentosa 68 [RCV002499833]|not provided [RCV001395363] Chr3:170480767 [GRCh38]
Chr3:170198556 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.759G>A (p.Gly253=) single nucleotide variant not provided [RCV001339534] Chr3:170498667 [GRCh38]
Chr3:170216456 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1692G>A (p.Thr564=) single nucleotide variant not provided [RCV001464895] Chr3:170480590 [GRCh38]
Chr3:170198379 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1233G>A (p.Met411Ile) single nucleotide variant not provided [RCV001435640] Chr3:170481049 [GRCh38]
Chr3:170198838 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.261C>T (p.Val87=) single nucleotide variant not provided [RCV001468555] Chr3:170526676 [GRCh38]
Chr3:170244465 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.264T>C (p.Ile88=) single nucleotide variant not provided [RCV001458313] Chr3:170526673 [GRCh38]
Chr3:170244462 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.906+20G>A single nucleotide variant not provided [RCV001404938] Chr3:170486202 [GRCh38]
Chr3:170203991 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV001465549] Chr3:170526928 [GRCh38]
Chr3:170244717 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.372T>C (p.Tyr124=) single nucleotide variant not provided [RCV001499033] Chr3:170501278 [GRCh38]
Chr3:170219067 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.330T>C (p.Val110=) single nucleotide variant not provided [RCV001499117] Chr3:170501320 [GRCh38]
Chr3:170219109 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2091C>T (p.Asp697=) single nucleotide variant not provided [RCV001484908] Chr3:170467280 [GRCh38]
Chr3:170185068 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1245G>A (p.Thr415=) single nucleotide variant not provided [RCV001479779] Chr3:170481037 [GRCh38]
Chr3:170198826 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1008C>T (p.Phe336=) single nucleotide variant not provided [RCV001431247] Chr3:170483421 [GRCh38]
Chr3:170201210 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=) single nucleotide variant not provided [RCV001452655] Chr3:170483355 [GRCh38]
Chr3:170201144 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.681C>T (p.Phe227=) single nucleotide variant not provided [RCV001477729] Chr3:170498745 [GRCh38]
Chr3:170216534 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.906+19C>T single nucleotide variant not provided [RCV001489539] Chr3:170486203 [GRCh38]
Chr3:170203992 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.447C>T (p.Ala149=) single nucleotide variant not provided [RCV001467154] Chr3:170501203 [GRCh38]
Chr3:170218992 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.531C>T (p.Leu177=) single nucleotide variant not provided [RCV001472592] Chr3:170501119 [GRCh38]
Chr3:170218908 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1698C>A (p.Thr566=) single nucleotide variant not provided [RCV001498672] Chr3:170480584 [GRCh38]
Chr3:170198373 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1896C>T (p.Leu632=) single nucleotide variant not provided [RCV001467810] Chr3:170480386 [GRCh38]
Chr3:170198175 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.585C>T (p.Ile195=) single nucleotide variant not provided [RCV001419937] Chr3:170498841 [GRCh38]
Chr3:170216630 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1115+14T>G single nucleotide variant not provided [RCV001406765] Chr3:170483300 [GRCh38]
Chr3:170201089 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2142C>T (p.Gly714=) single nucleotide variant not provided [RCV001425171] Chr3:170467229 [GRCh38]
Chr3:170185017 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.542-8C>G single nucleotide variant not provided [RCV001415575] Chr3:170498892 [GRCh38]
Chr3:170216681 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1680G>C (p.Ala560=) single nucleotide variant not provided [RCV001436135] Chr3:170480602 [GRCh38]
Chr3:170198391 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1833G>C (p.Leu611=) single nucleotide variant not provided [RCV001401222] Chr3:170480449 [GRCh38]
Chr3:170198238 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.907-10G>A single nucleotide variant not provided [RCV001444714] Chr3:170483532 [GRCh38]
Chr3:170201321 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.542-7T>C single nucleotide variant not provided [RCV001407971] Chr3:170498891 [GRCh38]
Chr3:170216680 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2211G>A (p.Ala737=) single nucleotide variant not provided [RCV001426723] Chr3:170467160 [GRCh38]
Chr3:170184948 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1461A>G (p.Pro487=) single nucleotide variant not provided [RCV001432065] Chr3:170480821 [GRCh38]
Chr3:170198610 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.542-13C>A single nucleotide variant not provided [RCV001440689] Chr3:170498897 [GRCh38]
Chr3:170216686 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.304+5G>A single nucleotide variant not provided [RCV001519098] Chr3:170526628 [GRCh38]
Chr3:170244417 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.582G>A (p.Leu194=) single nucleotide variant not provided [RCV001467782] Chr3:170498844 [GRCh38]
Chr3:170216633 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1491G>C (p.Gly497=) single nucleotide variant not provided [RCV001450418] Chr3:170480791 [GRCh38]
Chr3:170198580 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1680G>A (p.Ala560=) single nucleotide variant not provided [RCV001495487] Chr3:170480602 [GRCh38]
Chr3:170198391 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2210C>T (p.Ala737Val) single nucleotide variant not provided [RCV001510222] Chr3:170467161 [GRCh38]
Chr3:170184949 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.2130C>T (p.Tyr710=) single nucleotide variant not provided [RCV001479585] Chr3:170467241 [GRCh38]
Chr3:170185029 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1230G>A (p.Met410Ile) single nucleotide variant not provided [RCV001455292] Chr3:170481052 [GRCh38]
Chr3:170198841 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=) single nucleotide variant Retinitis pigmentosa 68 [RCV001810051]|not provided [RCV001511478] Chr3:170481109 [GRCh38]
Chr3:170198898 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1683G>A (p.Thr561=) single nucleotide variant not provided [RCV001477099] Chr3:170480599 [GRCh38]
Chr3:170198388 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.171C>T (p.Asp57=) single nucleotide variant not provided [RCV001455974] Chr3:170526766 [GRCh38]
Chr3:170244555 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1299T>G (p.Pro433=) single nucleotide variant not provided [RCV001500777] Chr3:170480983 [GRCh38]
Chr3:170198772 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.759+9G>T single nucleotide variant not provided [RCV001458066] Chr3:170498658 [GRCh38]
Chr3:170216447 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.453C>A (p.Ala151=) single nucleotide variant not provided [RCV001465529] Chr3:170501197 [GRCh38]
Chr3:170218986 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1215A>G (p.Arg405=) single nucleotide variant not provided [RCV001501667] Chr3:170481067 [GRCh38]
Chr3:170198856 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1994-9G>A single nucleotide variant not provided [RCV001520499] Chr3:170467386 [GRCh38]
Chr3:170185174 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.636C>T (p.Gly212=) single nucleotide variant not provided [RCV001403469] Chr3:170498790 [GRCh38]
Chr3:170216579 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=) single nucleotide variant not provided [RCV001485938] Chr3:170467295 [GRCh38]
Chr3:170185083 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2241G>A (p.Ala747=) single nucleotide variant not provided [RCV001505133] Chr3:170467130 [GRCh38]
Chr3:170184918 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1120C>T (p.Leu374=) single nucleotide variant not provided [RCV001497825] Chr3:170481162 [GRCh38]
Chr3:170198951 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1188G>A (p.Ala396=) single nucleotide variant not provided [RCV001415583] Chr3:170481094 [GRCh38]
Chr3:170198883 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV001427713] Chr3:170483370 [GRCh38]
Chr3:170201159 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1830C>G (p.Thr610=) single nucleotide variant not provided [RCV001398687] Chr3:170480452 [GRCh38]
Chr3:170198241 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1713G>A (p.Leu571=) single nucleotide variant not provided [RCV001479310] Chr3:170480569 [GRCh38]
Chr3:170198358 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2097T>C (p.Asp699=) single nucleotide variant not provided [RCV001441516] Chr3:170467274 [GRCh38]
Chr3:170185062 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1116-12C>T single nucleotide variant Retinitis pigmentosa 68 [RCV001810058]|not provided [RCV001518141] Chr3:170481178 [GRCh38]
Chr3:170198967 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=) single nucleotide variant not provided [RCV001463853] Chr3:170480791 [GRCh38]
Chr3:170198580 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1848G>C (p.Leu616=) single nucleotide variant not provided [RCV001484051] Chr3:170480434 [GRCh38]
Chr3:170198223 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1126C>G (p.His376Asp) single nucleotide variant not provided [RCV001441741] Chr3:170481156 [GRCh38]
Chr3:170198945 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2093T>G (p.Val698Gly) single nucleotide variant not provided [RCV001895671] Chr3:170467278 [GRCh38]
Chr3:170185066 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1195G>A (p.Ala399Thr) single nucleotide variant not provided [RCV002045729] Chr3:170481087 [GRCh38]
Chr3:170198876 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.503G>A (p.Arg168His) single nucleotide variant not provided [RCV002004205] Chr3:170501147 [GRCh38]
Chr3:170218936 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2188T>C (p.Tyr730His) single nucleotide variant Inborn genetic diseases [RCV003166983]|not provided [RCV001896220] Chr3:170467183 [GRCh38]
Chr3:170184971 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.674G>C (p.Trp225Ser) single nucleotide variant not provided [RCV001969326] Chr3:170498752 [GRCh38]
Chr3:170216541 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 copy number gain not provided [RCV001827868] Chr3:168118411..179867071 [GRCh37]
Chr3:3q26.2-26.33
likely pathogenic
NM_020949.3(SLC7A14):c.1300G>A (p.Glu434Lys) single nucleotide variant not provided [RCV001891974] Chr3:170480982 [GRCh38]
Chr3:170198771 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.25G>T (p.Asp9Tyr) single nucleotide variant not provided [RCV002024485] Chr3:170526912 [GRCh38]
Chr3:170244701 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1403G>A (p.Ser468Asn) single nucleotide variant not provided [RCV001965345] Chr3:170480879 [GRCh38]
Chr3:170198668 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2261A>G (p.Lys754Arg) single nucleotide variant not provided [RCV002044989] Chr3:170467110 [GRCh38]
Chr3:170184898 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.305G>C (p.Gly102Ala) single nucleotide variant not provided [RCV002003987] Chr3:170501345 [GRCh38]
Chr3:170219134 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1611T>G (p.Ile537Met) single nucleotide variant not provided [RCV001968874] Chr3:170480671 [GRCh38]
Chr3:170198460 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.540G>A (p.Leu180=) single nucleotide variant not provided [RCV002022508] Chr3:170501110 [GRCh38]
Chr3:170218899 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.5G>A (p.Ser2Asn) single nucleotide variant not provided [RCV002004959] Chr3:170526932 [GRCh38]
Chr3:170244721 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1066C>T (p.Pro356Ser) single nucleotide variant not provided [RCV002005019] Chr3:170483363 [GRCh38]
Chr3:170201152 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.481C>G (p.Leu161Val) single nucleotide variant not provided [RCV001911177] Chr3:170501169 [GRCh38]
Chr3:170218958 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
NM_020949.3(SLC7A14):c.289G>A (p.Ala97Thr) single nucleotide variant not provided [RCV001912015] Chr3:170526648 [GRCh38]
Chr3:170244437 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.913G>A (p.Val305Met) single nucleotide variant not provided [RCV001926749] Chr3:170483516 [GRCh38]
Chr3:170201305 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.67C>T (p.His23Tyr) single nucleotide variant not provided [RCV002044092] Chr3:170526870 [GRCh38]
Chr3:170244659 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.845A>T (p.Asn282Ile) single nucleotide variant not provided [RCV001986795] Chr3:170486283 [GRCh38]
Chr3:170204072 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1548G>C (p.Met516Ile) single nucleotide variant not provided [RCV001863303] Chr3:170480734 [GRCh38]
Chr3:170198523 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1924G>A (p.Val642Met) single nucleotide variant not provided [RCV001984112] Chr3:170480358 [GRCh38]
Chr3:170198147 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2183G>C (p.Gly728Ala) single nucleotide variant not provided [RCV002042989] Chr3:170467188 [GRCh38]
Chr3:170184976 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1996C>A (p.Leu666Met) single nucleotide variant not provided [RCV001890844] Chr3:170467375 [GRCh38]
Chr3:170185163 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1187C>T (p.Ala396Val) single nucleotide variant not provided [RCV002042814] Chr3:170481095 [GRCh38]
Chr3:170198884 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1129G>T (p.Val377Phe) single nucleotide variant not provided [RCV001893106] Chr3:170481153 [GRCh38]
Chr3:170198942 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1126C>T (p.His376Tyr) single nucleotide variant not provided [RCV001926986] Chr3:170481156 [GRCh38]
Chr3:170198945 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2221G>A (p.Gly741Ser) single nucleotide variant not provided [RCV001926469] Chr3:170467150 [GRCh38]
Chr3:170184938 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1675G>A (p.Ala559Thr) single nucleotide variant not provided [RCV002023718] Chr3:170480607 [GRCh38]
Chr3:170198396 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.50C>G (p.Ala17Gly) single nucleotide variant not provided [RCV002020268] Chr3:170526887 [GRCh38]
Chr3:170244676 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2020A>C (p.Ile674Leu) single nucleotide variant not provided [RCV001943935] Chr3:170467351 [GRCh38]
Chr3:170185139 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1026G>A (p.Ser342=) single nucleotide variant not provided [RCV001885493] Chr3:170483403 [GRCh38]
Chr3:170201192 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.682A>T (p.Ile228Phe) single nucleotide variant not provided [RCV002038073] Chr3:170498744 [GRCh38]
Chr3:170216533 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1877C>A (p.Pro626His) single nucleotide variant not provided [RCV001951864] Chr3:170480405 [GRCh38]
Chr3:170198194 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.644A>G (p.Asn215Ser) single nucleotide variant not provided [RCV001885829] Chr3:170498782 [GRCh38]
Chr3:170216571 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.148G>A (p.Ala50Thr) single nucleotide variant not provided [RCV002031353] Chr3:170526789 [GRCh38]
Chr3:170244578 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1648C>T (p.Leu550Phe) single nucleotide variant Inborn genetic diseases [RCV003365550]|not provided [RCV001923299] Chr3:170480634 [GRCh38]
Chr3:170198423 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.205A>C (p.Thr69Pro) single nucleotide variant not provided [RCV002037077] Chr3:170526732 [GRCh38]
Chr3:170244521 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1633A>G (p.Arg545Gly) single nucleotide variant not provided [RCV001979194] Chr3:170480649 [GRCh38]
Chr3:170198438 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.427T>G (p.Tyr143Asp) single nucleotide variant not provided [RCV002037404] Chr3:170501223 [GRCh38]
Chr3:170219012 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2145G>C (p.Glu715Asp) single nucleotide variant not provided [RCV002038334] Chr3:170467226 [GRCh38]
Chr3:170185014 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1399G>A (p.Val467Met) single nucleotide variant not provided [RCV001972187] Chr3:170480883 [GRCh38]
Chr3:170198672 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.418A>G (p.Ile140Val) single nucleotide variant not provided [RCV001918607] Chr3:170501232 [GRCh38]
Chr3:170219021 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.892A>G (p.Thr298Ala) single nucleotide variant not provided [RCV001955189] Chr3:170486236 [GRCh38]
Chr3:170204025 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.691G>T (p.Ala231Ser) single nucleotide variant not provided [RCV002001427] Chr3:170498735 [GRCh38]
Chr3:170216524 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1639C>T (p.Arg547Trp) single nucleotide variant Inborn genetic diseases [RCV003303420]|not provided [RCV001921555] Chr3:170480643 [GRCh38]
Chr3:170198432 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.696C>T (p.Gly232=) single nucleotide variant not provided [RCV002031925] Chr3:170498730 [GRCh38]
Chr3:170216519 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.508A>G (p.Met170Val) single nucleotide variant not provided [RCV001943680] Chr3:170501142 [GRCh38]
Chr3:170218931 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1813G>T (p.Val605Leu) single nucleotide variant not provided [RCV002019089] Chr3:170480469 [GRCh38]
Chr3:170198258 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.332G>A (p.Arg111Gln) single nucleotide variant not provided [RCV001962322] Chr3:170501318 [GRCh38]
Chr3:170219107 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.808A>G (p.Ile270Val) single nucleotide variant Inborn genetic diseases [RCV002571367]|not provided [RCV001977865] Chr3:170486320 [GRCh38]
Chr3:170204109 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2140G>A (p.Gly714Ser) single nucleotide variant not provided [RCV001922963] Chr3:170467231 [GRCh38]
Chr3:170185019 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.325G>C (p.Gly109Arg) single nucleotide variant not provided [RCV002015527] Chr3:170501325 [GRCh38]
Chr3:170219114 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.748G>A (p.Gly250Ser) single nucleotide variant not provided [RCV001900842] Chr3:170498678 [GRCh38]
Chr3:170216467 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.66G>A (p.Met22Ile) single nucleotide variant not provided [RCV001978033] Chr3:170526871 [GRCh38]
Chr3:170244660 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1046G>C (p.Ser349Thr) single nucleotide variant not provided [RCV001932604] Chr3:170483383 [GRCh38]
Chr3:170201172 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.599C>T (p.Thr200Ile) single nucleotide variant not provided [RCV001957822] Chr3:170498827 [GRCh38]
Chr3:170216616 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1102G>C (p.Gly368Arg) single nucleotide variant not provided [RCV002015209] Chr3:170483327 [GRCh38]
Chr3:170201116 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr) single nucleotide variant not provided [RCV002015281] Chr3:170467324 [GRCh38]
Chr3:170185112 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.308T>C (p.Val103Ala) single nucleotide variant not provided [RCV001881896] Chr3:170501342 [GRCh38]
Chr3:170219131 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.885C>G (p.Ile295Met) single nucleotide variant not provided [RCV001976199] Chr3:170486243 [GRCh38]
Chr3:170204032 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1237A>G (p.Ile413Val) single nucleotide variant not provided [RCV002033182] Chr3:170481045 [GRCh38]
Chr3:170198834 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1463C>A (p.Ser488Tyr) single nucleotide variant not provided [RCV002014884] Chr3:170480819 [GRCh38]
Chr3:170198608 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.468C>A (p.Ser156Arg) single nucleotide variant not provided [RCV001901377] Chr3:170501182 [GRCh38]
Chr3:170218971 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.527C>A (p.Thr176Asn) single nucleotide variant not provided [RCV001903632] Chr3:170501123 [GRCh38]
Chr3:170218912 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2141G>A (p.Gly714Asp) single nucleotide variant not provided [RCV001877409] Chr3:170467230 [GRCh38]
Chr3:170185018 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1631T>C (p.Met544Thr) single nucleotide variant not provided [RCV001951760] Chr3:170480651 [GRCh38]
Chr3:170198440 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.364T>C (p.Tyr122His) single nucleotide variant not provided [RCV001996531] Chr3:170501286 [GRCh38]
Chr3:170219075 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1508C>T (p.Thr503Ile) single nucleotide variant not provided [RCV002010704] Chr3:170480774 [GRCh38]
Chr3:170198563 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2011G>C (p.Gly671Arg) single nucleotide variant not provided [RCV002031951] Chr3:170467360 [GRCh38]
Chr3:170185148 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2131G>A (p.Ala711Thr) single nucleotide variant not provided [RCV002018389] Chr3:170467240 [GRCh38]
Chr3:170185028 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1977G>A (p.Ala659=) single nucleotide variant not provided [RCV002036263] Chr3:170480305 [GRCh38]
Chr3:170198094 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_020949.3(SLC7A14):c.2107T>C (p.Ser703Pro) single nucleotide variant not provided [RCV002013329] Chr3:170467264 [GRCh38]
Chr3:170185052 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.128C>T (p.Thr43Met) single nucleotide variant not provided [RCV001907130] Chr3:170526809 [GRCh38]
Chr3:170244598 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.906T>C (p.Ser302=) single nucleotide variant not provided [RCV001883498] Chr3:170486222 [GRCh38]
Chr3:170204011 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.512C>T (p.Ala171Val) single nucleotide variant not provided [RCV001885492] Chr3:170501138 [GRCh38]
Chr3:170218927 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.392T>C (p.Val131Ala) single nucleotide variant Inborn genetic diseases [RCV002548753]|not provided [RCV002016856] Chr3:170501258 [GRCh38]
Chr3:170219047 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1439C>T (p.Thr480Ile) single nucleotide variant not provided [RCV001879669] Chr3:170480843 [GRCh38]
Chr3:170198632 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.155dup (p.Leu53fs) duplication not provided [RCV001885577] Chr3:170526781..170526782 [GRCh38]
Chr3:170244570..170244571 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.341A>G (p.Lys114Arg) single nucleotide variant not provided [RCV001961349] Chr3:170501309 [GRCh38]
Chr3:170219098 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.512C>A (p.Ala171Glu) single nucleotide variant not provided [RCV001961378] Chr3:170501138 [GRCh38]
Chr3:170218927 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2078A>T (p.Tyr693Phe) single nucleotide variant not provided [RCV001878645] Chr3:170467293 [GRCh38]
Chr3:170185081 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1294C>G (p.Gln432Glu) single nucleotide variant not provided [RCV001996761] Chr3:170480988 [GRCh38]
Chr3:170198777 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1454A>G (p.Asn485Ser) single nucleotide variant not provided [RCV001903580] Chr3:170480828 [GRCh38]
Chr3:170198617 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.83G>C (p.Arg28Pro) single nucleotide variant Inborn genetic diseases [RCV002573460]|not provided [RCV001998245] Chr3:170526854 [GRCh38]
Chr3:170244643 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.68A>G (p.His23Arg) single nucleotide variant Inborn genetic diseases [RCV002555674]|not provided [RCV001907006] Chr3:170526869 [GRCh38]
Chr3:170244658 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.710A>G (p.Asn237Ser) single nucleotide variant Inborn genetic diseases [RCV002555635]|not provided [RCV001925087] Chr3:170498716 [GRCh38]
Chr3:170216505 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2131G>T (p.Ala711Ser) single nucleotide variant not provided [RCV002010574] Chr3:170467240 [GRCh38]
Chr3:170185028 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1547T>G (p.Met516Arg) single nucleotide variant not provided [RCV002010940] Chr3:170480735 [GRCh38]
Chr3:170198524 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1091T>C (p.Met364Thr) single nucleotide variant not provided [RCV002049081] Chr3:170483338 [GRCh38]
Chr3:170201127 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1164C>A (p.Cys388Ter) single nucleotide variant not provided [RCV001880493] Chr3:170481118 [GRCh38]
Chr3:170198907 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.848C>T (p.Thr283Met) single nucleotide variant Inborn genetic diseases [RCV002555422]|not provided [RCV001935382] Chr3:170486280 [GRCh38]
Chr3:170204069 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.542-15G>A single nucleotide variant not provided [RCV002210479] Chr3:170498899 [GRCh38]
Chr3:170216688 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.765G>T (p.Leu255=) single nucleotide variant not provided [RCV002185023] Chr3:170486363 [GRCh38]
Chr3:170204152 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1194C>T (p.Leu398=) single nucleotide variant not provided [RCV002111304] Chr3:170481088 [GRCh38]
Chr3:170198877 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1968C>T (p.Ile656=) single nucleotide variant not provided [RCV002169175] Chr3:170480314 [GRCh38]
Chr3:170198103 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1719C>T (p.Phe573=) single nucleotide variant not provided [RCV002186898] Chr3:170480563 [GRCh38]
Chr3:170198352 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1758T>A (p.Gly586=) single nucleotide variant not provided [RCV002090631] Chr3:170480524 [GRCh38]
Chr3:170198313 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.906+13T>C single nucleotide variant not provided [RCV002205734] Chr3:170486209 [GRCh38]
Chr3:170203998 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1068G>A (p.Pro356=) single nucleotide variant not provided [RCV002126128] Chr3:170483361 [GRCh38]
Chr3:170201150 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1332G>A (p.Leu444=) single nucleotide variant not provided [RCV002146181] Chr3:170480950 [GRCh38]
Chr3:170198739 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1572A>G (p.Glu524=) single nucleotide variant not provided [RCV002085784] Chr3:170480710 [GRCh38]
Chr3:170198499 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.912C>T (p.Ser304=) single nucleotide variant not provided [RCV002189331] Chr3:170483517 [GRCh38]
Chr3:170201306 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2163C>T (p.Gly721=) single nucleotide variant not provided [RCV002084724] Chr3:170467208 [GRCh38]
Chr3:170184996 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1023G>T (p.Gly341=) single nucleotide variant not provided [RCV002168689] Chr3:170483406 [GRCh38]
Chr3:170201195 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.726G>C (p.Ala242=) single nucleotide variant not provided [RCV002146033] Chr3:170498700 [GRCh38]
Chr3:170216489 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.907-9T>C single nucleotide variant not provided [RCV002096834] Chr3:170483531 [GRCh38]
Chr3:170201320 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV002095394] Chr3:170498736 [GRCh38]
Chr3:170216525 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2088C>T (p.Tyr696=) single nucleotide variant not provided [RCV002093537] Chr3:170467283 [GRCh38]
Chr3:170185071 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1824C>T (p.Ile608=) single nucleotide variant not provided [RCV002152642] Chr3:170480458 [GRCh38]
Chr3:170198247 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.894A>G (p.Thr298=) single nucleotide variant not provided [RCV002195438] Chr3:170486234 [GRCh38]
Chr3:170204023 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.900T>C (p.Tyr300=) single nucleotide variant not provided [RCV002194172] Chr3:170486228 [GRCh38]
Chr3:170204017 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.759+12C>G single nucleotide variant not provided [RCV002131186] Chr3:170498655 [GRCh38]
Chr3:170216444 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1020T>C (p.Ile340=) single nucleotide variant not provided [RCV002212008] Chr3:170483409 [GRCh38]
Chr3:170201198 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.849G>A (p.Thr283=) single nucleotide variant not provided [RCV002079307] Chr3:170486279 [GRCh38]
Chr3:170204068 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.760-10_760-9delinsTC indel not provided [RCV002141324] Chr3:170486377..170486378 [GRCh38]
Chr3:170204166..170204167 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.759+17C>T single nucleotide variant not provided [RCV002181460] Chr3:170498650 [GRCh38]
Chr3:170216439 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.513G>A (p.Ala171=) single nucleotide variant not provided [RCV002164051] Chr3:170501137 [GRCh38]
Chr3:170218926 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.528C>A (p.Thr176=) single nucleotide variant not provided [RCV002084453] Chr3:170501122 [GRCh38]
Chr3:170218911 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2136A>C (p.Thr712=) single nucleotide variant not provided [RCV002081418] Chr3:170467235 [GRCh38]
Chr3:170185023 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.305-8C>T single nucleotide variant not provided [RCV002100184] Chr3:170501353 [GRCh38]
Chr3:170219142 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1107C>T (p.Leu369=) single nucleotide variant not provided [RCV002178519] Chr3:170483322 [GRCh38]
Chr3:170201111 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.534T>C (p.Asn178=) single nucleotide variant not provided [RCV002175228] Chr3:170501116 [GRCh38]
Chr3:170218905 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1161C>T (p.Ala387=) single nucleotide variant not provided [RCV002159518] Chr3:170481121 [GRCh38]
Chr3:170198910 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1115+11T>C single nucleotide variant not provided [RCV002156288] Chr3:170483303 [GRCh38]
Chr3:170201092 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1875G>A (p.Leu625=) single nucleotide variant not provided [RCV002141377] Chr3:170480407 [GRCh38]
Chr3:170198196 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.99G>T (p.Glu33Asp) single nucleotide variant not provided [RCV002082865] Chr3:170526838 [GRCh38]
Chr3:170244627 [GRCh37]
Chr3:3q26.2
benign
NC_000003.11:g.(?_170244402)_(170244725_?)dup duplication not provided [RCV003109786] Chr3:170244402..170244725 [GRCh37]
Chr3:3q26.2
uncertain significance
NC_000003.11:g.(?_170184843)_(170244725_?)dup duplication not provided [RCV003109787] Chr3:170184843..170244725 [GRCh37]
Chr3:3q26.2
uncertain significance
NC_000003.11:g.(?_168802697)_(172835521_?)dup duplication Fanconi-Bickel syndrome [RCV003111067] Chr3:168802697..172835521 [GRCh37]
Chr3:3q26.2-26.31
uncertain significance
NM_020949.3(SLC7A14):c.1337A>G (p.Glu446Gly) single nucleotide variant not provided [RCV002296963] Chr3:170480945 [GRCh38]
Chr3:170198734 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1355A>T (p.Lys452Met) single nucleotide variant Inborn genetic diseases [RCV003304933] Chr3:170480927 [GRCh38]
Chr3:170198716 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1941G>C (p.Met647Ile) single nucleotide variant not provided [RCV002303335] Chr3:170480341 [GRCh38]
Chr3:170198130 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q26.2(chr3:170201971-170426609)x1 copy number loss not provided [RCV002473527] Chr3:170201971..170426609 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.88A>G (p.Lys30Glu) single nucleotide variant not provided [RCV002305226] Chr3:170526849 [GRCh38]
Chr3:170244638 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1372G>A (p.Asp458Asn) single nucleotide variant not provided [RCV002305250] Chr3:170480910 [GRCh38]
Chr3:170198699 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1177T>C (p.Phe393Leu) single nucleotide variant not provided [RCV002301298] Chr3:170481105 [GRCh38]
Chr3:170198894 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1604A>G (p.Lys535Arg) single nucleotide variant not provided [RCV002298093] Chr3:170480678 [GRCh38]
Chr3:170198467 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.29C>T (p.Pro10Leu) single nucleotide variant not provided [RCV002298217] Chr3:170526908 [GRCh38]
Chr3:170244697 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.92C>A (p.Pro31Gln) single nucleotide variant not provided [RCV002972133] Chr3:170526845 [GRCh38]
Chr3:170244634 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.167T>A (p.Val56Glu) single nucleotide variant not provided [RCV002750239] Chr3:170526770 [GRCh38]
Chr3:170244559 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.191G>A (p.Gly64Asp) single nucleotide variant not provided [RCV002815673] Chr3:170526746 [GRCh38]
Chr3:170244535 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.673T>C (p.Trp225Arg) single nucleotide variant not provided [RCV002994200] Chr3:170498753 [GRCh38]
Chr3:170216542 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1858G>T (p.Glu620Ter) single nucleotide variant not provided [RCV002838127] Chr3:170480424 [GRCh38]
Chr3:170198213 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1946A>G (p.Lys649Arg) single nucleotide variant not provided [RCV002685505] Chr3:170480336 [GRCh38]
Chr3:170198125 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1994-9G>C single nucleotide variant not provided [RCV003098895] Chr3:170467386 [GRCh38]
Chr3:170185174 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.350G>C (p.Gly117Ala) single nucleotide variant not provided [RCV002996455] Chr3:170501300 [GRCh38]
Chr3:170219089 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.414C>T (p.Asn138=) single nucleotide variant not provided [RCV002685433] Chr3:170501236 [GRCh38]
Chr3:170219025 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2224C>T (p.Arg742Trp) single nucleotide variant not provided [RCV002617584] Chr3:170467147 [GRCh38]
Chr3:170184935 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1969C>T (p.Arg657Trp) single nucleotide variant Inborn genetic diseases [RCV002778337] Chr3:170480313 [GRCh38]
Chr3:170198102 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.955G>A (p.Glu319Lys) single nucleotide variant not provided [RCV002903213] Chr3:170483474 [GRCh38]
Chr3:170201263 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.384G>A (p.Gly128=) single nucleotide variant not provided [RCV002730671] Chr3:170501266 [GRCh38]
Chr3:170219055 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1441T>G (p.Cys481Gly) single nucleotide variant not provided [RCV003016217] Chr3:170480841 [GRCh38]
Chr3:170198630 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.542-17del deletion not provided [RCV003014041] Chr3:170498901 [GRCh38]
Chr3:170216690 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.568C>T (p.Leu190Phe) single nucleotide variant not provided [RCV003015002] Chr3:170498858 [GRCh38]
Chr3:170216647 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1764C>T (p.Asp588=) single nucleotide variant not provided [RCV003032644] Chr3:170480518 [GRCh38]
Chr3:170198307 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1009G>A (p.Val337Ile) single nucleotide variant not provided [RCV003098923] Chr3:170483420 [GRCh38]
Chr3:170201209 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.284C>T (p.Ala95Val) single nucleotide variant Inborn genetic diseases [RCV002753646] Chr3:170526653 [GRCh38]
Chr3:170244442 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.379G>A (p.Val127Ile) single nucleotide variant Inborn genetic diseases [RCV002715150]|not provided [RCV002690275] Chr3:170501271 [GRCh38]
Chr3:170219060 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1647C>T (p.Gly549=) single nucleotide variant not provided [RCV002617983] Chr3:170480635 [GRCh38]
Chr3:170198424 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2196A>G (p.Gln732=) single nucleotide variant not provided [RCV002617517] Chr3:170467175 [GRCh38]
Chr3:170184963 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.245T>C (p.Met82Thr) single nucleotide variant not provided [RCV002591018] Chr3:170526692 [GRCh38]
Chr3:170244481 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.589G>A (p.Val197Ile) single nucleotide variant not provided [RCV003039576] Chr3:170498837 [GRCh38]
Chr3:170216626 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.154G>A (p.Val52Ile) single nucleotide variant not provided [RCV002926748] Chr3:170526783 [GRCh38]
Chr3:170244572 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.893C>T (p.Thr298Ile) single nucleotide variant not provided [RCV002621951] Chr3:170486235 [GRCh38]
Chr3:170204024 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1408G>A (p.Gly470Arg) single nucleotide variant not provided [RCV002572138] Chr3:170480874 [GRCh38]
Chr3:170198663 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1691C>T (p.Thr564Met) single nucleotide variant Inborn genetic diseases [RCV002720017]|not provided [RCV002695442] Chr3:170480591 [GRCh38]
Chr3:170198380 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.97G>A (p.Glu33Lys) single nucleotide variant not provided [RCV002659121] Chr3:170526840 [GRCh38]
Chr3:170244629 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.252A>G (p.Gly84=) single nucleotide variant not provided [RCV002914073] Chr3:170526685 [GRCh38]
Chr3:170244474 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1686G>A (p.Gly562=) single nucleotide variant not provided [RCV003018378] Chr3:170480596 [GRCh38]
Chr3:170198385 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.489C>A (p.Asn163Lys) single nucleotide variant not provided [RCV003018055] Chr3:170501161 [GRCh38]
Chr3:170218950 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1144G>A (p.Glu382Lys) single nucleotide variant not provided [RCV002820490] Chr3:170481138 [GRCh38]
Chr3:170198927 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2186T>G (p.Phe729Cys) single nucleotide variant not provided [RCV002735495] Chr3:170467185 [GRCh38]
Chr3:170184973 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1101C>T (p.Asp367=) single nucleotide variant not provided [RCV002780519] Chr3:170483328 [GRCh38]
Chr3:170201117 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.402C>T (p.Phe134=) single nucleotide variant not provided [RCV002622611] Chr3:170501248 [GRCh38]
Chr3:170219037 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2163C>A (p.Gly721=) single nucleotide variant not provided [RCV002706241] Chr3:170467208 [GRCh38]
Chr3:170184996 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1913T>C (p.Phe638Ser) single nucleotide variant Inborn genetic diseases [RCV002799373] Chr3:170480369 [GRCh38]
Chr3:170198158 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1966A>T (p.Ile656Phe) single nucleotide variant Inborn genetic diseases [RCV002844881] Chr3:170480316 [GRCh38]
Chr3:170198105 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.906+13T>G single nucleotide variant not provided [RCV002927282] Chr3:170486209 [GRCh38]
Chr3:170203998 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1263G>C (p.Leu421Phe) single nucleotide variant not provided [RCV002621703] Chr3:170481019 [GRCh38]
Chr3:170198808 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1116-15G>A single nucleotide variant not provided [RCV002597174] Chr3:170481181 [GRCh38]
Chr3:170198970 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1310T>C (p.Ile437Thr) single nucleotide variant not provided [RCV002710897] Chr3:170480972 [GRCh38]
Chr3:170198761 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2225G>A (p.Arg742Gln) single nucleotide variant not provided [RCV002668025] Chr3:170467146 [GRCh38]
Chr3:170184934 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1932C>A (p.Ile644=) single nucleotide variant not provided [RCV002596976] Chr3:170480350 [GRCh38]
Chr3:170198139 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.627T>G (p.Asn209Lys) single nucleotide variant not provided [RCV003040299] Chr3:170498799 [GRCh38]
Chr3:170216588 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2232T>G (p.Ser744Arg) single nucleotide variant not provided [RCV002576236] Chr3:170467139 [GRCh38]
Chr3:170184927 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1458A>T (p.Leu486Phe) single nucleotide variant not provided [RCV003056221] Chr3:170480824 [GRCh38]
Chr3:170198613 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1994-10C>T single nucleotide variant not provided [RCV002741054] Chr3:170467387 [GRCh38]
Chr3:170185175 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.93A>G (p.Pro31=) single nucleotide variant not provided [RCV003043400] Chr3:170526844 [GRCh38]
Chr3:170244633 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2016T>C (p.Tyr672=) single nucleotide variant not provided [RCV002876457] Chr3:170467355 [GRCh38]
Chr3:170185143 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2046C>T (p.Ser682=) single nucleotide variant not provided [RCV002741643] Chr3:170467325 [GRCh38]
Chr3:170185113 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1764_1765del (p.Asp588fs) deletion not provided [RCV002894800] Chr3:170480517..170480518 [GRCh38]
Chr3:170198306..170198307 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.542-17A>G single nucleotide variant not provided [RCV002667905] Chr3:170498901 [GRCh38]
Chr3:170216690 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1347C>A (p.Thr449=) single nucleotide variant not provided [RCV002594640] Chr3:170480935 [GRCh38]
Chr3:170198724 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2187C>G (p.Phe729Leu) single nucleotide variant not provided [RCV003006417] Chr3:170467184 [GRCh38]
Chr3:170184972 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1017C>A (p.Ala339=) single nucleotide variant not provided [RCV003059151] Chr3:170483412 [GRCh38]
Chr3:170201201 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1494del (p.Lys498fs) deletion not provided [RCV003022444] Chr3:170480788 [GRCh38]
Chr3:170198577 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.872C>A (p.Ala291Asp) single nucleotide variant not provided [RCV003040742] Chr3:170486256 [GRCh38]
Chr3:170204045 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1146G>T (p.Glu382Asp) single nucleotide variant Inborn genetic diseases [RCV002873860] Chr3:170481136 [GRCh38]
Chr3:170198925 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.813C>T (p.Ile271=) single nucleotide variant not provided [RCV002575362] Chr3:170486315 [GRCh38]
Chr3:170204104 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1810del (p.Met604fs) deletion not provided [RCV003065887] Chr3:170480472 [GRCh38]
Chr3:170198261 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.833C>A (p.Ala278Asp) single nucleotide variant not provided [RCV002720119] Chr3:170486295 [GRCh38]
Chr3:170204084 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.743C>T (p.Pro248Leu) single nucleotide variant Inborn genetic diseases [RCV002602044]|not provided [RCV002602045] Chr3:170498683 [GRCh38]
Chr3:170216472 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.305-7C>T single nucleotide variant not provided [RCV003029585] Chr3:170501352 [GRCh38]
Chr3:170219141 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2058G>A (p.Glu686=) single nucleotide variant not provided [RCV002630181] Chr3:170467313 [GRCh38]
Chr3:170185101 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1993+15T>C single nucleotide variant not provided [RCV002671142] Chr3:170480274 [GRCh38]
Chr3:170198063 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1671C>A (p.Pro557=) single nucleotide variant not provided [RCV003027461] Chr3:170480611 [GRCh38]
Chr3:170198400 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.304+15G>A single nucleotide variant not provided [RCV002649407] Chr3:170526618 [GRCh38]
Chr3:170244407 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.682A>G (p.Ile228Val) single nucleotide variant not provided [RCV002746463] Chr3:170498744 [GRCh38]
Chr3:170216533 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1131C>G (p.Val377=) single nucleotide variant not provided [RCV002720415] Chr3:170481151 [GRCh38]
Chr3:170198940 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.378T>C (p.Thr126=) single nucleotide variant not provided [RCV003047923] Chr3:170501272 [GRCh38]
Chr3:170219061 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.794T>C (p.Phe265Ser) single nucleotide variant Inborn genetic diseases [RCV002940185] Chr3:170486334 [GRCh38]
Chr3:170204123 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.760-9T>A single nucleotide variant not provided [RCV002745983] Chr3:170486377 [GRCh38]
Chr3:170204166 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.2050C>T (p.Arg684Ter) single nucleotide variant not provided [RCV002646461] Chr3:170467321 [GRCh38]
Chr3:170185109 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.305-17A>G single nucleotide variant not provided [RCV002580215] Chr3:170501362 [GRCh38]
Chr3:170219151 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.64A>G (p.Met22Val) single nucleotide variant not provided [RCV002631540] Chr3:170526873 [GRCh38]
Chr3:170244662 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2089G>A (p.Asp697Asn) single nucleotide variant Inborn genetic diseases [RCV003167636]|not provided [RCV002715046] Chr3:170467282 [GRCh38]
Chr3:170185070 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1116-11G>A single nucleotide variant not provided [RCV002578439] Chr3:170481177 [GRCh38]
Chr3:170198966 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1199T>C (p.Leu400Pro) single nucleotide variant Inborn genetic diseases [RCV002939998] Chr3:170481083 [GRCh38]
Chr3:170198872 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1994-12del deletion not provided [RCV002649786] Chr3:170467389 [GRCh38]
Chr3:170185177 [GRCh37]
Chr3:3q26.2
benign
NM_020949.3(SLC7A14):c.2071A>G (p.Ser691Gly) single nucleotide variant not provided [RCV003047997] Chr3:170467300 [GRCh38]
Chr3:170185088 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.497T>C (p.Ile166Thr) single nucleotide variant not provided [RCV002632281] Chr3:170501153 [GRCh38]
Chr3:170218942 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV002636037] Chr3:170501205 [GRCh38]
Chr3:170218994 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.282_284dup (p.Ala95_Val96insAla) duplication not provided [RCV003032232] Chr3:170526652..170526653 [GRCh38]
Chr3:170244441..170244442 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.305-19del deletion not provided [RCV002635674] Chr3:170501364 [GRCh38]
Chr3:170219153 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1924G>T (p.Val642Leu) single nucleotide variant not provided [RCV002721472] Chr3:170480358 [GRCh38]
Chr3:170198147 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.588G>A (p.Ala196=) single nucleotide variant not provided [RCV002605575] Chr3:170498838 [GRCh38]
Chr3:170216627 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.305-2A>G single nucleotide variant not provided [RCV002586668] Chr3:170501347 [GRCh38]
Chr3:170219136 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1362C>A (p.Gly454=) single nucleotide variant not provided [RCV002584548] Chr3:170480920 [GRCh38]
Chr3:170198709 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.418A>T (p.Ile140Phe) single nucleotide variant not provided [RCV002590064] Chr3:170501232 [GRCh38]
Chr3:170219021 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.453C>T (p.Ala151=) single nucleotide variant not provided [RCV002635997] Chr3:170501197 [GRCh38]
Chr3:170218986 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.1803T>C (p.Val601=) single nucleotide variant not provided [RCV002609062] Chr3:170480479 [GRCh38]
Chr3:170198268 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.945C>G (p.Thr315=) single nucleotide variant not provided [RCV002613082] Chr3:170483484 [GRCh38]
Chr3:170201273 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.158T>C (p.Leu53Pro) single nucleotide variant not provided [RCV002610332] Chr3:170526779 [GRCh38]
Chr3:170244568 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2051G>A (p.Arg684Gln) single nucleotide variant not provided [RCV002589868] Chr3:170467320 [GRCh38]
Chr3:170185108 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.968T>C (p.Met323Thr) single nucleotide variant not provided [RCV002634442] Chr3:170483461 [GRCh38]
Chr3:170201250 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV003261512] Chr3:170526845 [GRCh38]
Chr3:170244634 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.295A>G (p.Ile99Val) single nucleotide variant Inborn genetic diseases [RCV003174879] Chr3:170526642 [GRCh38]
Chr3:170244431 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.516C>G (p.Asp172Glu) single nucleotide variant Inborn genetic diseases [RCV003381304] Chr3:170501134 [GRCh38]
Chr3:170218923 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1739G>T (p.Cys580Phe) single nucleotide variant Inborn genetic diseases [RCV003372270] Chr3:170480543 [GRCh38]
Chr3:170198332 [GRCh37]
Chr3:3q26.2
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_020949.3(SLC7A14):c.1631T>A (p.Met544Lys) single nucleotide variant not provided [RCV003573604] Chr3:170480651 [GRCh38]
Chr3:170198440 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.2075C>T (p.Thr692Met) single nucleotide variant not provided [RCV003661449] Chr3:170467296 [GRCh38]
Chr3:170185084 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.517A>T (p.Ser173Cys) single nucleotide variant not provided [RCV003688470] Chr3:170501133 [GRCh38]
Chr3:170218922 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.443C>T (p.Ala148Val) single nucleotide variant not provided [RCV003547013] Chr3:170501207 [GRCh38]
Chr3:170218996 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.907-12_907-11del deletion not provided [RCV003575804] Chr3:170483533..170483534 [GRCh38]
Chr3:170201322..170201323 [GRCh37]
Chr3:3q26.2
likely benign
NM_020949.3(SLC7A14):c.407G>A (p.Gly136Asp) single nucleotide variant not provided [RCV003574229] Chr3:170501243 [GRCh38]
Chr3:170219032 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.931G>C (p.Val311Leu) single nucleotide variant not provided [RCV003546318] Chr3:170483498 [GRCh38]
Chr3:170201287 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_020949.3(SLC7A14):c.1482del (p.Met494fs) deletion not provided [RCV003575447] Chr3:170480800 [GRCh38]
Chr3:170198589 [GRCh37]
Chr3:3q26.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2715
Count of miRNA genes:1089
Interacting mature miRNAs:1351
Transcripts:ENST00000231706, ENST00000466168
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.

Markers in Region
D3S3723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,251,412 - 170,251,549UniSTSGRCh37
Build 363171,734,106 - 171,734,243RGDNCBI36
Celera3168,650,589 - 168,650,726RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,621,099 - 167,621,238UniSTS
Marshfield Genetic Map3180.8RGD
Marshfield Genetic Map3180.8UniSTS
Genethon Genetic Map3187.0UniSTS
deCODE Assembly Map3171.45UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,188,853 - 170,188,984UniSTSGRCh37
GRCh373170,188,816 - 170,188,993UniSTSGRCh37
Build 363171,671,547 - 171,671,678RGDNCBI36
Celera3168,587,991 - 168,588,168UniSTS
Celera3168,588,028 - 168,588,159RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,558,546 - 167,558,677UniSTS
HuRef3167,558,509 - 167,558,686UniSTS
Marshfield Genetic Map3180.8RGD
Genethon Genetic Map3187.0UniSTS
TNG Radiation Hybrid Map326469.0UniSTS
deCODE Assembly Map3171.45UniSTS
Stanford-G3 RH Map37859.0UniSTS
GeneMap99-GB4 RH Map3630.14UniSTS
Whitehead-RH Map3767.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31499.5UniSTS
GeneMap99-G3 RH Map38329.0UniSTS
RH78995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,177,558 - 170,177,712UniSTSGRCh37
Build 363171,660,252 - 171,660,406RGDNCBI36
Celera3168,576,732 - 168,576,886RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,547,238 - 167,547,392UniSTS
GeneMap99-GB4 RH Map3630.14UniSTS
NCBI RH Map31499.5UniSTS
RH123089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,304,629 - 170,304,901UniSTSGRCh37
Build 363171,787,323 - 171,787,595RGDNCBI36
Celera3168,703,824 - 168,704,096RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,674,234 - 167,674,506UniSTS
TNG Radiation Hybrid Map326560.0UniSTS
SHGC-105847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,187,402 - 170,187,725UniSTSGRCh37
Build 363171,670,096 - 171,670,419RGDNCBI36
Celera3168,586,577 - 168,586,900RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,557,083 - 167,557,406UniSTS
TNG Radiation Hybrid Map326461.0UniSTS
SHGC-142944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,205,812 - 170,206,159UniSTSGRCh37
Build 363171,688,506 - 171,688,853RGDNCBI36
Celera3168,604,989 - 168,605,336RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,575,506 - 167,575,853UniSTS
TNG Radiation Hybrid Map326501.0UniSTS
SHGC-144148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,215,872 - 170,216,200UniSTSGRCh37
Build 363171,698,566 - 171,698,894RGDNCBI36
Celera3168,615,051 - 168,615,379RGD
Cytogenetic Map3q26.2UniSTS
HuRef3167,585,570 - 167,585,898UniSTS
TNG Radiation Hybrid Map326521.0UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
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Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D3S1564  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q26.2UniSTS
Marshfield Genetic Map3180.8UniSTS
Genethon Genetic Map3187.0UniSTS
deCODE Assembly Map3171.45UniSTS
GeneMap99-GB4 RH Map3630.14UniSTS
Whitehead-RH Map3767.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31499.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 199 1021 1 4 39 1
Low 739 2 134 7 51 7 130 189 1957 32 122 37 1 1 2 13
Below cutoff 1588 2157 1041 399 839 249 3652 1608 750 263 1164 1278 161 1148 2320 3

Sequence


RefSeq Acc Id: ENST00000231706   ⟹   ENSP00000231706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3170,459,548 - 170,586,075 (-)Ensembl
RefSeq Acc Id: ENST00000466168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3170,570,090 - 170,586,027 (-)Ensembl
RefSeq Acc Id: NM_020949   ⟹   NP_066000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,459,548 - 170,586,075 (-)NCBI
GRCh373170,177,342 - 170,303,863 (-)RGD
Build 363171,667,255 - 171,786,552 (-)NCBI Archive
Celera3168,576,516 - 168,703,058 (-)RGD
HuRef3167,547,022 - 167,673,468 (-)ENTREZGENE
CHM1_13170,140,494 - 170,267,053 (-)NCBI
T2T-CHM13v2.03173,243,852 - 173,370,405 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_066000 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22968 (Get FASTA)   NCBI Sequence Viewer  
  BAB13439 (Get FASTA)   NCBI Sequence Viewer  
  BAG53645 (Get FASTA)   NCBI Sequence Viewer  
  EAW78510 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000231706
  ENSP00000231706.4
GenBank Protein Q8TBB6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_066000   ⟸   NM_020949
- UniProtKB: B3KV33 (UniProtKB/Swiss-Prot),   Q9HCF9 (UniProtKB/Swiss-Prot),   Q8TBB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000231706   ⟸   ENST00000231706

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBB6-F1-model_v2 AlphaFold Q8TBB6 1-771 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29326 AgrOrtholog
COSMIC SLC7A14 COSMIC
Ensembl Genes ENSG00000013293 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000231706 ENTREZGENE
  ENST00000231706.6 UniProtKB/Swiss-Prot
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot
GTEx ENSG00000013293 GTEx
HGNC ID HGNC:29326 ENTREZGENE
Human Proteome Map SLC7A14 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot
  CAT_C UniProtKB/Swiss-Prot
KEGG Report hsa:57709 UniProtKB/Swiss-Prot
NCBI Gene 57709 ENTREZGENE
OMIM 615720 OMIM
PANTHER CATIONIC AMINO ACID TRANSPORTER-RELATED UniProtKB/Swiss-Prot
  INNER MEMBRANE TRANSPORTER YGJI-RELATED UniProtKB/Swiss-Prot
Pfam AA_permease_2 UniProtKB/Swiss-Prot
  AA_permease_C UniProtKB/Swiss-Prot
PharmGKB PA142670913 PharmGKB
UniProt B3KV33 ENTREZGENE
  Q8TBB6 ENTREZGENE
  Q9HCF9 ENTREZGENE
  S7A14_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KV33 UniProtKB/Swiss-Prot
  Q9HCF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC7A14  solute carrier family 7 member 14    solute carrier family 7, member 14  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC7A14  solute carrier family 7, member 14    solute carrier family 7 (orphan transporter), member 14  Symbol and/or name change 5135510 APPROVED
2011-07-27 SLC7A14  solute carrier family 7 (orphan transporter), member 14  SLC7A14  solute carrier family 7 (cationic amino acid transporter, y+ system), member 14  Symbol and/or name change 5135510 APPROVED