STAB1 (stabilin 1) - Rat Genome Database

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Gene: STAB1 (stabilin 1) Homo sapiens
Analyze
Symbol: STAB1
Name: stabilin 1
RGD ID: 1321166
HGNC Page HGNC:18628
Description: Enables low-density lipoprotein particle binding activity; low-density lipoprotein particle receptor activity; and scavenger receptor activity. Involved in cell-cell signaling; defense response to bacterium; and negative regulation of angiogenesis. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLEVER-1; common lymphatic endothelial and vascular endothelial receptor-1; fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1; fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1; FEEL-1; FEEL1; FELE-1; FEX1; HRFT; KIAA0246; MS-1 antigen; SCARH2; STAB-1; stabilin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,495,338 - 52,524,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,495,338 - 52,524,495 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,529,354 - 52,558,511 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,504,396 - 52,533,551 (+)NCBINCBI36Build 36hg18NCBI36
Build 34352,504,439 - 52,533,540NCBI
Celera352,508,595 - 52,537,970 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,591,899 - 52,621,386 (+)NCBIHuRef
CHM1_1352,481,711 - 52,510,878 (+)NCBICHM1_1
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cobalt dichloride  (EXP)
Cuprizon  (ISO)
diarsenic trioxide  (EXP)
dimethylselenide  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
hydrogen peroxide  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phosgene  (ISO)
reactive oxygen species  (EXP)
selenium atom  (EXP)
sodium dichromate  (EXP)
sulforaphane  (ISO)
tamoxifen  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9039502   PMID:10737800   PMID:11829752   PMID:12077138   PMID:12168954   PMID:12473645   PMID:12477932   PMID:12616502   PMID:14702039   PMID:15297319   PMID:15345716   PMID:15345724  
PMID:15572036   PMID:16357325   PMID:16670288   PMID:17006978   PMID:18029348   PMID:18292525   PMID:18854154   PMID:19367581   PMID:19457577   PMID:19726632   PMID:19752197   PMID:20467437  
PMID:20599701   PMID:20935629   PMID:20953554   PMID:21308731   PMID:21368224   PMID:21480214   PMID:21483103   PMID:21653829   PMID:21926972   PMID:21988832   PMID:23670221   PMID:23974872  
PMID:24097068   PMID:25056061   PMID:25136889   PMID:25732088   PMID:26608916   PMID:27105498   PMID:28631095   PMID:30021884   PMID:30652402   PMID:30926591   PMID:31586073   PMID:32595212  
PMID:34374322   PMID:34968453   PMID:35914814   PMID:36724073   PMID:37490907   PMID:37926735  


Genomics

Comparative Map Data
STAB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,495,338 - 52,524,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,495,338 - 52,524,495 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,529,354 - 52,558,511 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,504,396 - 52,533,551 (+)NCBINCBI36Build 36hg18NCBI36
Build 34352,504,439 - 52,533,540NCBI
Celera352,508,595 - 52,537,970 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,591,899 - 52,621,386 (+)NCBIHuRef
CHM1_1352,481,711 - 52,510,878 (+)NCBICHM1_1
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBIT2T-CHM13v2.0
Stab1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391430,860,974 - 30,890,616 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1430,860,970 - 30,890,598 (-)EnsemblGRCm39 Ensembl
GRCm381431,139,017 - 31,168,651 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1431,139,013 - 31,168,641 (-)EnsemblGRCm38mm10GRCm38
MGSCv371431,952,203 - 31,981,827 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361429,968,026 - 29,997,581 (-)NCBIMGSCv36mm8
Celera1427,397,577 - 27,427,203 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.09NCBI
Stab1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8166,336,871 - 6,367,374 (-)NCBIGRCr8
mRatBN7.2166,330,435 - 6,360,934 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl166,330,444 - 6,360,923 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0167,220,434 - 7,250,934 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl167,222,067 - 7,250,924 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0167,149,003 - 7,179,503 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4166,567,583 - 6,597,972 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1166,567,700 - 6,598,257 (-)NCBI
Celera168,827,983 - 8,858,792 (+)NCBICelera
Cytogenetic Map16p16NCBI
Stab1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554302,491,974 - 2,518,063 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554302,491,960 - 2,518,063 (+)NCBIChiLan1.0ChiLan1.0
STAB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2252,490,522 - 52,519,287 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1352,495,293 - 52,524,059 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0352,437,378 - 52,466,143 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,665,387 - 53,694,138 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,665,386 - 53,694,139 (+)Ensemblpanpan1.1panPan2
STAB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,249,744 - 37,276,642 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2037,249,746 - 37,276,535 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,231,571 - 37,258,465 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02037,599,193 - 37,626,089 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,599,204 - 37,626,083 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12036,963,745 - 36,990,590 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,372,373 - 37,399,226 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02037,650,617 - 37,677,514 (-)NCBIUU_Cfam_GSD_1.0
Stab1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118170,195,365 - 170,224,683 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364733,334,032 - 3,363,117 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364733,333,988 - 3,363,256 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1334,636,083 - 34,659,219 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11334,630,448 - 34,659,371 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21337,845,303 - 37,872,110 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STAB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,862,105 - 13,892,199 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,870,551 - 13,896,970 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,007,867 - 153,037,207 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stab1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248224,684,103 - 4,710,964 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248224,683,955 - 4,711,161 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STAB1
228 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_015136.2(STAB1):c.2737A>G (p.Arg913Gly) single nucleotide variant Malignant melanoma [RCV000066141] Chr3:52510457 [GRCh38]
Chr3:52544473 [GRCh37]
Chr3:52519513 [NCBI36]
Chr3:3p21.1		 not provided
NM_015136.2(STAB1):c.4727G>A (p.Gly1576Glu) single nucleotide variant Malignant melanoma [RCV000066142] Chr3:52517969 [GRCh38]
Chr3:52551985 [GRCh37]
Chr3:52527025 [NCBI36]
Chr3:3p21.1		 not provided
NM_015136.2(STAB1):c.4728G>A (p.Gly1576=) single nucleotide variant Malignant melanoma [RCV000066143] Chr3:52517970 [GRCh38]
Chr3:52551986 [GRCh37]
Chr3:52527026 [NCBI36]
Chr3:3p21.1		 not provided
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_015136.3(STAB1):c.2978G>A (p.Arg993Gln) single nucleotide variant not specified [RCV004332647] Chr3:52512435 [GRCh38]
Chr3:52546451 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.5494C>T (p.Arg1832Trp) single nucleotide variant not specified [RCV004287651] Chr3:52520285 [GRCh38]
Chr3:52554301 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2893C>T (p.Arg965Trp) single nucleotide variant not specified [RCV004311100] Chr3:52512350 [GRCh38]
Chr3:52546366 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2988G>C (p.Glu996Asp) single nucleotide variant not specified [RCV004290758] Chr3:52512604 [GRCh38]
Chr3:52546620 [GRCh37]
Chr3:3p21.1		 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
NM_015136.3(STAB1):c.7190T>C (p.Leu2397Pro) single nucleotide variant not specified [RCV004306633] Chr3:52523476 [GRCh38]
Chr3:52557492 [GRCh37]
Chr3:3p21.1		 uncertain significance
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_015136.3(STAB1):c.2312C>T (p.Ser771Leu) single nucleotide variant not specified [RCV004324235] Chr3:52509286 [GRCh38]
Chr3:52543302 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3079T>C (p.Ser1027Pro) single nucleotide variant not specified [RCV004288754] Chr3:52512879 [GRCh38]
Chr3:52546895 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1663C>T (p.Arg555Cys) single nucleotide variant not specified [RCV004330921] Chr3:52505749 [GRCh38]
Chr3:52539765 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5785G>A (p.Val1929Ile) single nucleotide variant not specified [RCV004291254] Chr3:52520882 [GRCh38]
Chr3:52554898 [GRCh37]
Chr3:3p21.1		 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_015136.3(STAB1):c.3251A>G (p.Glu1084Gly) single nucleotide variant not specified [RCV004296259] Chr3:52513222 [GRCh38]
Chr3:52547238 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3321C>T (p.Thr1107=) single nucleotide variant not provided [RCV000943753] Chr3:52513767 [GRCh38]
Chr3:52547783 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.6648C>T (p.Ser2216=) single nucleotide variant not provided [RCV000970099] Chr3:52522592 [GRCh38]
Chr3:52556608 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.3447+4C>T single nucleotide variant not provided [RCV000965641] Chr3:52513985 [GRCh38]
Chr3:52548001 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.2535-3C>T single nucleotide variant not provided [RCV000881116] Chr3:52510139 [GRCh38]
Chr3:52544155 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.5615G>A (p.Arg1872His) single nucleotide variant not provided [RCV000972646] Chr3:52520515 [GRCh38]
Chr3:52554531 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_015136.3(STAB1):c.5439G>A (p.Leu1813=) single nucleotide variant not provided [RCV000974983] Chr3:52520230 [GRCh38]
Chr3:52554246 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.504C>T (p.His168=) single nucleotide variant not provided [RCV000946738] Chr3:52502648 [GRCh38]
Chr3:52536664 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.1582-7A>G single nucleotide variant not provided [RCV000946740] Chr3:52505661 [GRCh38]
Chr3:52539677 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.7493A>G (p.Tyr2498Cys) single nucleotide variant not specified [RCV004315193] Chr3:52523968 [GRCh38]
Chr3:52557984 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6399C>A (p.Arg2133=) single nucleotide variant not provided [RCV000917321] Chr3:52522164 [GRCh38]
Chr3:52556180 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.2930C>A (p.Pro977His) single nucleotide variant not provided [RCV000894253] Chr3:52512387 [GRCh38]
Chr3:52546403 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3051C>T (p.Ala1017=) single nucleotide variant not provided [RCV000891728] Chr3:52512851 [GRCh38]
Chr3:52546867 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 copy number loss not provided [RCV000848455] Chr3:52195134..52869037 [GRCh37]
Chr3:3p21.2-21.1		 pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_015136.3(STAB1):c.1886C>T (p.Ala629Val) single nucleotide variant not specified [RCV004326645] Chr3:52506747 [GRCh38]
Chr3:52540763 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.322C>T (p.Arg108Trp) single nucleotide variant not specified [RCV004288695] Chr3:52501744 [GRCh38]
Chr3:52535760 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3059G>A (p.Arg1020Gln) single nucleotide variant not specified [RCV004284192] Chr3:52512859 [GRCh38]
Chr3:52546875 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_015136.3(STAB1):c.5762T>C (p.Leu1921Pro) single nucleotide variant not specified [RCV004305598] Chr3:52520859 [GRCh38]
Chr3:52554875 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.239C>G (p.Ser80Cys) single nucleotide variant not specified [RCV004313594] Chr3:52501661 [GRCh38]
Chr3:52535677 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1892A>G (p.Asn631Ser) single nucleotide variant not specified [RCV004288922] Chr3:52506753 [GRCh38]
Chr3:52540769 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1852G>A (p.Glu618Lys) single nucleotide variant not specified [RCV004291853] Chr3:52506713 [GRCh38]
Chr3:52540729 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7178A>G (p.Asn2393Ser) single nucleotide variant not specified [RCV004301702] Chr3:52523464 [GRCh38]
Chr3:52557480 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4762-4C>G single nucleotide variant not provided [RCV000883116] Chr3:52518308 [GRCh38]
Chr3:52552324 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.891+9G>C single nucleotide variant not provided [RCV000881099] Chr3:52503549 [GRCh38]
Chr3:52537565 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.6403C>G (p.Pro2135Ala) single nucleotide variant not provided [RCV000963119] Chr3:52522168 [GRCh38]
Chr3:52556184 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_015136.3(STAB1):c.1686C>T (p.Leu562=) single nucleotide variant not provided [RCV000953708] Chr3:52505772 [GRCh38]
Chr3:52539788 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.5829C>T (p.Gly1943=) single nucleotide variant not provided [RCV000974984] Chr3:52520926 [GRCh38]
Chr3:52554942 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.4301C>T (p.Ser1434Leu) single nucleotide variant not provided [RCV000880325] Chr3:52516706 [GRCh38]
Chr3:52550722 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3056G>A (p.Arg1019His) single nucleotide variant not provided [RCV000956774] Chr3:52512856 [GRCh38]
Chr3:52546872 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.6610+9C>T single nucleotide variant not provided [RCV000890034] Chr3:52522483 [GRCh38]
Chr3:52556499 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.5493G>A (p.Thr1831=) single nucleotide variant not provided [RCV000913391] Chr3:52520284 [GRCh38]
Chr3:52554300 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.7316G>A (p.Arg2439His) single nucleotide variant not provided [RCV000913392] Chr3:52523677 [GRCh38]
Chr3:52557693 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.1932G>A (p.Pro644=) single nucleotide variant not provided [RCV000956773] Chr3:52506793 [GRCh38]
Chr3:52540809 [GRCh37]
Chr3:3p21.1		 benign
NM_015136.3(STAB1):c.464G>A (p.Arg155Gln) single nucleotide variant not specified [RCV004308789] Chr3:52502205 [GRCh38]
Chr3:52536221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7517T>C (p.Met2506Thr) single nucleotide variant not provided [RCV001644023] Chr3:52523992 [GRCh38]
Chr3:52523992..52523993 [GRCh38]
Chr3:52558008 [GRCh37]
Chr3:52558008..52558009 [GRCh37]
Chr3:3p21.1		 benign
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 copy number gain not provided [RCV001259685] Chr3:51975459..52561678 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NC_000003.11:g.(?_52109903)_(53164416_?)del deletion RFT1-congenital disorder of glycosylation [RCV003122979] Chr3:52109903..53164416 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_015136.3(STAB1):c.1097C>T (p.Ala366Val) single nucleotide variant not specified [RCV004313560] Chr3:52504102 [GRCh38]
Chr3:52538118 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5779C>T (p.Arg1927Cys) single nucleotide variant not specified [RCV004281764] Chr3:52520876 [GRCh38]
Chr3:52554892 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7633G>A (p.Asp2545Asn) single nucleotide variant not specified [RCV004322077] Chr3:52524190 [GRCh38]
Chr3:52558206 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5450G>A (p.Arg1817Gln) single nucleotide variant not specified [RCV004295478] Chr3:52520241 [GRCh38]
Chr3:52554257 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2900T>G (p.Val967Gly) single nucleotide variant not specified [RCV004141586] Chr3:52512357 [GRCh38]
Chr3:52546373 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7495C>T (p.Leu2499Phe) single nucleotide variant not specified [RCV004138241] Chr3:52523970 [GRCh38]
Chr3:52557986 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4121G>A (p.Arg1374His) single nucleotide variant not specified [RCV004084057] Chr3:52516215 [GRCh38]
Chr3:52550231 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6262G>A (p.Val2088Met) single nucleotide variant not specified [RCV004107373] Chr3:52521942 [GRCh38]
Chr3:52555958 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5272C>T (p.His1758Tyr) single nucleotide variant not specified [RCV004120043] Chr3:52519980 [GRCh38]
Chr3:52553996 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1084G>A (p.Glu362Lys) single nucleotide variant not specified [RCV004245603] Chr3:52504089 [GRCh38]
Chr3:52538105 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5509A>G (p.Met1837Val) single nucleotide variant not specified [RCV004088779] Chr3:52520409 [GRCh38]
Chr3:52554425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3674G>A (p.Gly1225Asp) single nucleotide variant not specified [RCV004128869] Chr3:52514492 [GRCh38]
Chr3:52548508 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5461G>A (p.Gly1821Arg) single nucleotide variant not specified [RCV004219239] Chr3:52520252 [GRCh38]
Chr3:52554268 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6237C>G (p.Ser2079Arg) single nucleotide variant not specified [RCV004107469] Chr3:52521917 [GRCh38]
Chr3:52555933 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7373C>T (p.Pro2458Leu) single nucleotide variant not specified [RCV004084502] Chr3:52523734 [GRCh38]
Chr3:52557750 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3608G>A (p.Arg1203Gln) single nucleotide variant not specified [RCV004101095] Chr3:52514426 [GRCh38]
Chr3:52548442 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.2374G>A (p.Asp792Asn) single nucleotide variant not specified [RCV004170772] Chr3:52509896 [GRCh38]
Chr3:52543912 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3734C>T (p.Ser1245Leu) single nucleotide variant not specified [RCV004216065] Chr3:52514756 [GRCh38]
Chr3:52548772 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3988G>C (p.Glu1330Gln) single nucleotide variant not specified [RCV004088913] Chr3:52516082 [GRCh38]
Chr3:52550098 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7316G>C (p.Arg2439Pro) single nucleotide variant not specified [RCV004200661] Chr3:52523677 [GRCh38]
Chr3:52557693 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5976T>A (p.Ser1992Arg) single nucleotide variant not specified [RCV004217828] Chr3:52521428 [GRCh38]
Chr3:52555444 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3256C>T (p.Arg1086Cys) single nucleotide variant not specified [RCV004136929] Chr3:52513227 [GRCh38]
Chr3:52547243 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3631C>T (p.Leu1211Phe) single nucleotide variant not specified [RCV004200869] Chr3:52514449 [GRCh38]
Chr3:52548465 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4825A>G (p.Lys1609Glu) single nucleotide variant not specified [RCV004118386] Chr3:52518551 [GRCh38]
Chr3:52552567 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1465G>A (p.Val489Met) single nucleotide variant not specified [RCV004127318] Chr3:52505090 [GRCh38]
Chr3:52539106 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3550G>A (p.Ala1184Thr) single nucleotide variant not specified [RCV004238218] Chr3:52514368 [GRCh38]
Chr3:52548384 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7523T>C (p.Phe2508Ser) single nucleotide variant not specified [RCV004235935] Chr3:52523998 [GRCh38]
Chr3:52558014 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6211C>T (p.Arg2071Cys) single nucleotide variant not specified [RCV004102220] Chr3:52521891 [GRCh38]
Chr3:52555907 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5827G>A (p.Gly1943Ser) single nucleotide variant not specified [RCV004198771] Chr3:52520924 [GRCh38]
Chr3:52554940 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.469G>A (p.Gly157Arg) single nucleotide variant not specified [RCV004107163] Chr3:52502210 [GRCh38]
Chr3:52536226 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5543G>A (p.Arg1848Gln) single nucleotide variant not specified [RCV004095177] Chr3:52520443 [GRCh38]
Chr3:52554459 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3187G>A (p.Glu1063Lys) single nucleotide variant not specified [RCV004112945] Chr3:52513158 [GRCh38]
Chr3:52547174 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4406A>G (p.His1469Arg) single nucleotide variant not specified [RCV004178549] Chr3:52517026 [GRCh38]
Chr3:52551042 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6481G>A (p.Glu2161Lys) single nucleotide variant not specified [RCV004173609] Chr3:52522345 [GRCh38]
Chr3:52556361 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4296G>C (p.Gln1432His) single nucleotide variant not specified [RCV004154222] Chr3:52516701 [GRCh38]
Chr3:52550717 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1576C>G (p.Leu526Val) single nucleotide variant not specified [RCV004180251] Chr3:52505376 [GRCh38]
Chr3:52539392 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7046C>A (p.Thr2349Asn) single nucleotide variant not specified [RCV004124023] Chr3:52523247 [GRCh38]
Chr3:52557263 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1909C>G (p.Leu637Val) single nucleotide variant not specified [RCV004198622] Chr3:52506770 [GRCh38]
Chr3:52540786 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.295G>A (p.Ala99Thr) single nucleotide variant not specified [RCV004213707] Chr3:52501717 [GRCh38]
Chr3:52535733 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5305G>T (p.Ala1769Ser) single nucleotide variant not specified [RCV004184489] Chr3:52520013 [GRCh38]
Chr3:52554029 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.4772G>A (p.Arg1591Lys) single nucleotide variant not specified [RCV004120306] Chr3:52518322 [GRCh38]
Chr3:52552338 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3299A>G (p.Asp1100Gly) single nucleotide variant not specified [RCV004164288] Chr3:52513745 [GRCh38]
Chr3:52547761 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1376C>T (p.Thr459Met) single nucleotide variant not specified [RCV004184321] Chr3:52504875 [GRCh38]
Chr3:52538891 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4878C>A (p.Asn1626Lys) single nucleotide variant not specified [RCV004208896] Chr3:52518604 [GRCh38]
Chr3:52552620 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7483G>A (p.Gly2495Arg) single nucleotide variant not specified [RCV004160199] Chr3:52523958 [GRCh38]
Chr3:52557974 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2151A>T (p.Glu717Asp) single nucleotide variant not specified [RCV004227786] Chr3:52508275 [GRCh38]
Chr3:52542291 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6566C>T (p.Pro2189Leu) single nucleotide variant not specified [RCV004077077] Chr3:52522430 [GRCh38]
Chr3:52556446 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7142C>T (p.Thr2381Met) single nucleotide variant not specified [RCV004209649] Chr3:52523428 [GRCh38]
Chr3:52557444 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1087G>A (p.Val363Met) single nucleotide variant not specified [RCV004202627] Chr3:52504092 [GRCh38]
Chr3:52538108 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5962G>A (p.Gly1988Ser) single nucleotide variant not specified [RCV004168171] Chr3:52521414 [GRCh38]
Chr3:52555430 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2899G>T (p.Val967Leu) single nucleotide variant not specified [RCV004239674] Chr3:52512356 [GRCh38]
Chr3:52546372 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7166T>C (p.Leu2389Pro) single nucleotide variant not specified [RCV004166063] Chr3:52523452 [GRCh38]
Chr3:52557468 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7201G>A (p.Ala2401Thr) single nucleotide variant not specified [RCV004215717] Chr3:52523487 [GRCh38]
Chr3:52557503 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2386G>A (p.Gly796Ser) single nucleotide variant not specified [RCV004227940] Chr3:52509908 [GRCh38]
Chr3:52543924 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6476G>A (p.Arg2159His) single nucleotide variant not specified [RCV004225375] Chr3:52522340 [GRCh38]
Chr3:52556356 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3691C>A (p.His1231Asn) single nucleotide variant not specified [RCV004168020] Chr3:52514713 [GRCh38]
Chr3:52548729 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1553C>T (p.Ala518Val) single nucleotide variant not specified [RCV004208243] Chr3:52505353 [GRCh38]
Chr3:52539369 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.181C>T (p.Arg61Trp) single nucleotide variant not specified [RCV004072852] Chr3:52501268 [GRCh38]
Chr3:52535284 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.715T>C (p.Ser239Pro) single nucleotide variant not specified [RCV004074185] Chr3:52503364 [GRCh38]
Chr3:52537380 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7409C>T (p.Ala2470Val) single nucleotide variant not specified [RCV004235222] Chr3:52523884 [GRCh38]
Chr3:52557900 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5200G>C (p.Gly1734Arg) single nucleotide variant not specified [RCV004137584] Chr3:52519529 [GRCh38]
Chr3:52553545 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2878G>A (p.Gly960Ser) single nucleotide variant not specified [RCV004189030] Chr3:52511740 [GRCh38]
Chr3:52545756 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7392G>T (p.Gln2464His) single nucleotide variant not specified [RCV004100061] Chr3:52523753 [GRCh38]
Chr3:52557769 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.346G>A (p.Ala116Thr) single nucleotide variant not specified [RCV004207877] Chr3:52502020 [GRCh38]
Chr3:52536036 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4081G>C (p.Gly1361Arg) single nucleotide variant not specified [RCV004197856] Chr3:52516175 [GRCh38]
Chr3:52550191 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4900C>G (p.Arg1634Gly) single nucleotide variant not specified [RCV004102043] Chr3:52518735 [GRCh38]
Chr3:52552751 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5332C>T (p.Arg1778Cys) single nucleotide variant not specified [RCV004077836] Chr3:52520040 [GRCh38]
Chr3:52554056 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2603C>T (p.Pro868Leu) single nucleotide variant not specified [RCV004208174] Chr3:52510210 [GRCh38]
Chr3:52544226 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6863G>A (p.Arg2288His) single nucleotide variant not specified [RCV004168783] Chr3:52522893 [GRCh38]
Chr3:52556909 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4732G>A (p.Gly1578Ser) single nucleotide variant not specified [RCV004220361] Chr3:52517974 [GRCh38]
Chr3:52551990 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6683C>A (p.Ala2228Glu) single nucleotide variant not specified [RCV004091290] Chr3:52522627 [GRCh38]
Chr3:52556643 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3326G>C (p.Gly1109Ala) single nucleotide variant not specified [RCV004077023] Chr3:52513772 [GRCh38]
Chr3:52547788 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6064C>T (p.Arg2022Cys) single nucleotide variant not specified [RCV004086447] Chr3:52521601 [GRCh38]
Chr3:52555617 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5975G>C (p.Ser1992Thr) single nucleotide variant not specified [RCV004217827] Chr3:52521427 [GRCh38]
Chr3:52555443 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1100C>T (p.Thr367Met) single nucleotide variant not specified [RCV004089711] Chr3:52504105 [GRCh38]
Chr3:52538121 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5138C>A (p.Ala1713Glu) single nucleotide variant not specified [RCV004251659] Chr3:52519367 [GRCh38]
Chr3:52553383 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3268G>A (p.Gly1090Arg) single nucleotide variant not specified [RCV004273640] Chr3:52513239 [GRCh38]
Chr3:52547255 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004274205] Chr3:52501254 [GRCh38]
Chr3:52535270 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6442G>A (p.Ala2148Thr) single nucleotide variant not specified [RCV004269587] Chr3:52522207 [GRCh38]
Chr3:52556223 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6929G>T (p.Arg2310Leu) single nucleotide variant not specified [RCV004270072] Chr3:52523043 [GRCh38]
Chr3:52557059 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7456G>A (p.Ala2486Thr) single nucleotide variant not specified [RCV004250169] Chr3:52523931 [GRCh38]
Chr3:52557947 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2794T>C (p.Cys932Arg) single nucleotide variant not specified [RCV004285228] Chr3:52511656 [GRCh38]
Chr3:52545672 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6260G>A (p.Arg2087His) single nucleotide variant not specified [RCV004265938] Chr3:52521940 [GRCh38]
Chr3:52555956 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3094C>T (p.Arg1032Cys) single nucleotide variant not specified [RCV004255351] Chr3:52512894 [GRCh38]
Chr3:52546910 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1357G>A (p.Val453Ile) single nucleotide variant not specified [RCV004273941] Chr3:52504856 [GRCh38]
Chr3:52538872 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5599C>A (p.Pro1867Thr) single nucleotide variant not specified [RCV004276790] Chr3:52520499 [GRCh38]
Chr3:52554515 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5530C>T (p.Arg1844Cys) single nucleotide variant not specified [RCV004253244] Chr3:52520430 [GRCh38]
Chr3:52554446 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5992C>T (p.Arg1998Cys) single nucleotide variant not specified [RCV004308609] Chr3:52521444 [GRCh38]
Chr3:52555460 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.863C>T (p.Thr288Ile) single nucleotide variant not specified [RCV004320567] Chr3:52503512 [GRCh38]
Chr3:52537528 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2902G>C (p.Gly968Arg) single nucleotide variant not specified [RCV004318824] Chr3:52512359 [GRCh38]
Chr3:52546375 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7498C>A (p.Arg2500Ser) single nucleotide variant not specified [RCV004299977] Chr3:52523973 [GRCh38]
Chr3:52557989 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6836G>A (p.Arg2279Gln) single nucleotide variant not specified [RCV004300016] Chr3:52522866 [GRCh38]
Chr3:52556882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.6730T>C (p.Ser2244Pro) single nucleotide variant Isolated hyperferritinemia [RCV003882742]|not specified [RCV004301956] Chr3:52522674 [GRCh38]
Chr3:52556690 [GRCh37]
Chr3:3p21.1		 affects|uncertain significance
NM_015136.3(STAB1):c.2438G>C (p.Arg813Pro) single nucleotide variant not specified [RCV004329348] Chr3:52509960 [GRCh38]
Chr3:52543976 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5729G>A (p.Arg1910His) single nucleotide variant not specified [RCV004363264] Chr3:52520826 [GRCh38]
Chr3:52554842 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3146C>T (p.Pro1049Leu) single nucleotide variant not specified [RCV004345837] Chr3:52512946 [GRCh38]
Chr3:52546962 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1415C>T (p.Thr472Met) single nucleotide variant not specified [RCV004341158] Chr3:52505040 [GRCh38]
Chr3:52539056 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3913C>T (p.Arg1305Trp) single nucleotide variant not specified [RCV004335924] Chr3:52515471 [GRCh38]
Chr3:52549487 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7322T>C (p.Ile2441Thr) single nucleotide variant not specified [RCV004353094] Chr3:52523683 [GRCh38]
Chr3:52557699 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5974A>G (p.Ser1992Gly) single nucleotide variant not specified [RCV004339318] Chr3:52521426 [GRCh38]
Chr3:52555442 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.340G>A (p.Gly114Arg) single nucleotide variant not specified [RCV004339829] Chr3:52502014 [GRCh38]
Chr3:52536030 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4439G>A (p.Arg1480Gln) single nucleotide variant not specified [RCV004336285] Chr3:52517059 [GRCh38]
Chr3:52551075 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4580G>A (p.Arg1527His) single nucleotide variant not specified [RCV004345944] Chr3:52517566 [GRCh38]
Chr3:52551582 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3434G>A (p.Arg1145Gln) single nucleotide variant not specified [RCV004343832] Chr3:52513968 [GRCh38]
Chr3:52547984 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7544C>T (p.Ala2515Val) single nucleotide variant not specified [RCV004342126] Chr3:52524101 [GRCh38]
Chr3:52558117 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1897G>A (p.Val633Met) single nucleotide variant not specified [RCV004365568] Chr3:52506758 [GRCh38]
Chr3:52540774 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3294C>T (p.Ser1098=) single nucleotide variant not provided [RCV003433627] Chr3:52513740 [GRCh38]
Chr3:52547756 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.885G>A (p.Pro295=) single nucleotide variant not provided [RCV003433626] Chr3:52503534 [GRCh38]
Chr3:52537550 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3429C>T (p.Leu1143=) single nucleotide variant not provided [RCV003437873] Chr3:52513963 [GRCh38]
Chr3:52547979 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.6762C>T (p.Cys2254=) single nucleotide variant not provided [RCV003437874] Chr3:52522792 [GRCh38]
Chr3:52556808 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3429C>A (p.Leu1143=) single nucleotide variant not provided [RCV003437872] Chr3:52513963 [GRCh38]
Chr3:52547979 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.527G>A (p.Arg176His) single nucleotide variant not provided [RCV003433625] Chr3:52502671 [GRCh38]
Chr3:52536687 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.459C>T (p.Pro153=) single nucleotide variant not provided [RCV003437870] Chr3:52502200 [GRCh38]
Chr3:52536216 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.584-5C>T single nucleotide variant not provided [RCV003437871] Chr3:52502994 [GRCh38]
Chr3:52537010 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.4712C>T (p.Thr1571Ile) single nucleotide variant not provided [RCV003433628] Chr3:52517954 [GRCh38]
Chr3:52551970 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_015136.3(STAB1):c.7328G>A (p.Trp2443Ter) single nucleotide variant Isolated hyperferritinemia [RCV003881737] Chr3:52523689 [GRCh38]
Chr3:52557705 [GRCh37]
Chr3:3p21.1		 affects
NM_015136.3(STAB1):c.5612_5646delinsG (p.Ala1871fs) indel Isolated hyperferritinemia [RCV003881734] Chr3:52520512..52520546 [GRCh38]
Chr3:52554528..52554562 [GRCh37]
Chr3:3p21.1		 affects
NM_015136.3(STAB1):c.1042G>A (p.Glu348Lys) single nucleotide variant Isolated hyperferritinemia [RCV003881736] Chr3:52504047 [GRCh38]
Chr3:52538063 [GRCh37]
Chr3:3p21.1		 affects
NM_015136.3(STAB1):c.7016A>G (p.Tyr2339Cys) single nucleotide variant Isolated hyperferritinemia [RCV003881735] Chr3:52523130 [GRCh38]
Chr3:52557146 [GRCh37]
Chr3:3p21.1		 affects
NM_015136.3(STAB1):c.1069G>A (p.Gly357Arg) single nucleotide variant not specified [RCV004463159] Chr3:52504074 [GRCh38]
Chr3:52538090 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1162C>T (p.Arg388Trp) single nucleotide variant not specified [RCV004463161] Chr3:52504472 [GRCh38]
Chr3:52538488 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1756G>A (p.Val586Ile) single nucleotide variant not specified [RCV004463163] Chr3:52506176 [GRCh38]
Chr3:52540192 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1804G>T (p.Val602Phe) single nucleotide variant not specified [RCV004463164] Chr3:52506224 [GRCh38]
Chr3:52540240 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1820T>C (p.Ile607Thr) single nucleotide variant not specified [RCV004463165] Chr3:52506240 [GRCh38]
Chr3:52540256 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.182G>A (p.Arg61Gln) single nucleotide variant not specified [RCV004463166] Chr3:52501269 [GRCh38]
Chr3:52535285 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2036C>A (p.Pro679His) single nucleotide variant not specified [RCV004463168] Chr3:52507659 [GRCh38]
Chr3:52541675 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.1138G>A (p.Val380Met) single nucleotide variant not specified [RCV004463160] Chr3:52504143 [GRCh38]
Chr3:52538159 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1562G>A (p.Arg521His) single nucleotide variant not specified [RCV004463162] Chr3:52505362 [GRCh38]
Chr3:52539378 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2032C>G (p.Pro678Ala) single nucleotide variant not specified [RCV004463167] Chr3:52507655 [GRCh38]
Chr3:52541671 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2164A>C (p.Lys722Gln) single nucleotide variant not specified [RCV004463170] Chr3:52508288 [GRCh38]
Chr3:52542304 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2351G>A (p.Cys784Tyr) single nucleotide variant not specified [RCV004463171] Chr3:52509873 [GRCh38]
Chr3:52543889 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2539C>T (p.Arg847Cys) single nucleotide variant not specified [RCV004463172] Chr3:52510146 [GRCh38]
Chr3:52544162 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2638G>A (p.Val880Ile) single nucleotide variant not specified [RCV004463173] Chr3:52510358 [GRCh38]
Chr3:52544374 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2680G>A (p.Gly894Ser) single nucleotide variant not specified [RCV004463174] Chr3:52510400 [GRCh38]
Chr3:52544416 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2719G>A (p.Glu907Lys) single nucleotide variant not specified [RCV004463175] Chr3:52510439 [GRCh38]
Chr3:52544455 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2755G>A (p.Asp919Asn) single nucleotide variant not specified [RCV004463176] Chr3:52510475 [GRCh38]
Chr3:52544491 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2945G>A (p.Gly982Asp) single nucleotide variant not specified [RCV004463177] Chr3:52512402 [GRCh38]
Chr3:52546418 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3082G>A (p.Glu1028Lys) single nucleotide variant not specified [RCV004463178] Chr3:52512882 [GRCh38]
Chr3:52546898 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3109G>A (p.Glu1037Lys) single nucleotide variant not specified [RCV004463179] Chr3:52512909 [GRCh38]
Chr3:52546925 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3124T>C (p.Trp1042Arg) single nucleotide variant not specified [RCV004463180] Chr3:52512924 [GRCh38]
Chr3:52546940 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3140C>T (p.Thr1047Met) single nucleotide variant not specified [RCV004463181] Chr3:52512940 [GRCh38]
Chr3:52546956 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3460G>A (p.Val1154Met) single nucleotide variant not specified [RCV004463184] Chr3:52514127 [GRCh38]
Chr3:52548143 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5732T>C (p.Phe1911Ser) single nucleotide variant not specified [RCV004463200] Chr3:52520829 [GRCh38]
Chr3:52554845 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5261G>T (p.Arg1754Leu) single nucleotide variant not specified [RCV004463197] Chr3:52519969 [GRCh38]
Chr3:52553985 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3790C>A (p.His1264Asn) single nucleotide variant not specified [RCV004463188] Chr3:52514812 [GRCh38]
Chr3:52548828 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3770C>T (p.Ser1257Leu) single nucleotide variant not specified [RCV004463187] Chr3:52514792 [GRCh38]
Chr3:52548808 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3484G>A (p.Ala1162Thr) single nucleotide variant not specified [RCV004463185] Chr3:52514151 [GRCh38]
Chr3:52548167 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3506C>A (p.Thr1169Asn) single nucleotide variant not specified [RCV004463186] Chr3:52514173 [GRCh38]
Chr3:52548189 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3370G>A (p.Asp1124Asn) single nucleotide variant not specified [RCV004463183] Chr3:52513904 [GRCh38]
Chr3:52547920 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.743C>G (p.Ser248Trp) single nucleotide variant not specified [RCV004463209] Chr3:52503392 [GRCh38]
Chr3:52537408 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7315C>T (p.Arg2439Cys) single nucleotide variant not specified [RCV004463208] Chr3:52523676 [GRCh38]
Chr3:52557692 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5635C>T (p.Arg1879Trp) single nucleotide variant not specified [RCV004463199] Chr3:52520535 [GRCh38]
Chr3:52554551 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5213A>G (p.Lys1738Arg) single nucleotide variant not specified [RCV004463196] Chr3:52519542 [GRCh38]
Chr3:52553558 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4930C>T (p.Arg1644Cys) single nucleotide variant not specified [RCV004463192] Chr3:52518765 [GRCh38]
Chr3:52552781 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5828G>A (p.Gly1943Asp) single nucleotide variant not specified [RCV004463203] Chr3:52520925 [GRCh38]
Chr3:52554941 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5194G>A (p.Ala1732Thr) single nucleotide variant not specified [RCV004463195] Chr3:52519523 [GRCh38]
Chr3:52553539 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5164C>T (p.Pro1722Ser) single nucleotide variant not specified [RCV004463194] Chr3:52519393 [GRCh38]
Chr3:52553409 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5750C>T (p.Thr1917Met) single nucleotide variant not specified [RCV004463201] Chr3:52520847 [GRCh38]
Chr3:52554863 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5162C>T (p.Ala1721Val) single nucleotide variant not specified [RCV004463193] Chr3:52519391 [GRCh38]
Chr3:52553407 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3202C>T (p.Arg1068Trp) single nucleotide variant not specified [RCV004463182] Chr3:52513173 [GRCh38]
Chr3:52547189 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5930G>A (p.Ser1977Asn) single nucleotide variant not specified [RCV004463204] Chr3:52521382 [GRCh38]
Chr3:52555398 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3838C>A (p.Arg1280Ser) single nucleotide variant not specified [RCV004463189] Chr3:52515019 [GRCh38]
Chr3:52549035 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.857A>G (p.Asn286Ser) single nucleotide variant not specified [RCV004463210] Chr3:52503506 [GRCh38]
Chr3:52537522 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.7235G>T (p.Gly2412Val) single nucleotide variant not specified [RCV004463206] Chr3:52523521 [GRCh38]
Chr3:52557537 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.655T>A (p.Cys219Ser) single nucleotide variant not specified [RCV004463205] Chr3:52503070 [GRCh38]
Chr3:52537086 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4751G>A (p.Arg1584Gln) single nucleotide variant not specified [RCV004463191] Chr3:52517993 [GRCh38]
Chr3:52552009 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4094C>T (p.Thr1365Met) single nucleotide variant not specified [RCV004463190] Chr3:52516188 [GRCh38]
Chr3:52550204 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5785G>T (p.Val1929Phe) single nucleotide variant not specified [RCV004463202] Chr3:52520882 [GRCh38]
Chr3:52554898 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_001134231.2(NT5DC2):c.1669C>T (p.Arg557Cys) single nucleotide variant not specified [RCV004638772] Chr3:52524475 [GRCh38]
Chr3:52558491 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5489G>A (p.Arg1830Gln) single nucleotide variant not specified [RCV004675622] Chr3:52520280 [GRCh38]
Chr3:52554296 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.14G>A (p.Arg5Gln) single nucleotide variant not specified [RCV004675613] Chr3:52495427 [GRCh38]
Chr3:52529443 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.1426T>C (p.Tyr476His) single nucleotide variant not specified [RCV004675614] Chr3:52505051 [GRCh38]
Chr3:52539067 [GRCh37]
Chr3:3p21.1		 likely benign
NM_015136.3(STAB1):c.3452A>G (p.His1151Arg) single nucleotide variant not specified [RCV004675615] Chr3:52514119 [GRCh38]
Chr3:52548135 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1083C>G (p.His361Gln) single nucleotide variant not specified [RCV004675616] Chr3:52504088 [GRCh38]
Chr3:52538104 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4677C>A (p.Ser1559Arg) single nucleotide variant not specified [RCV004675617] Chr3:52517919 [GRCh38]
Chr3:52551935 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.142G>A (p.Ala48Thr) single nucleotide variant not specified [RCV004675607] Chr3:52501229 [GRCh38]
Chr3:52535245 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3041C>T (p.Thr1014Met) single nucleotide variant not specified [RCV004675608] Chr3:52512841 [GRCh38]
Chr3:52546857 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6424G>A (p.Gly2142Arg) single nucleotide variant not specified [RCV004675609] Chr3:52522189 [GRCh38]
Chr3:52556205 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2902G>T (p.Gly968Trp) single nucleotide variant not specified [RCV004675610] Chr3:52512359 [GRCh38]
Chr3:52546375 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.2036C>G (p.Pro679Arg) single nucleotide variant not specified [RCV004675611] Chr3:52507659 [GRCh38]
Chr3:52541675 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.6940G>A (p.Val2314Met) single nucleotide variant not specified [RCV004675612] Chr3:52523054 [GRCh38]
Chr3:52557070 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3586G>A (p.Ala1196Thr) single nucleotide variant not specified [RCV004675618] Chr3:52514404 [GRCh38]
Chr3:52548420 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4366G>A (p.Val1456Met) single nucleotide variant not specified [RCV004675619] Chr3:52516986 [GRCh38]
Chr3:52551002 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.5728C>T (p.Arg1910Cys) single nucleotide variant not specified [RCV004675620] Chr3:52520825 [GRCh38]
Chr3:52554841 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.920T>G (p.Val307Gly) single nucleotide variant not specified [RCV004675621] Chr3:52503800 [GRCh38]
Chr3:52537816 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.1195G>A (p.Val399Met) single nucleotide variant not specified [RCV004679569] Chr3:52504505 [GRCh38]
Chr3:52538521 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4268A>C (p.Lys1423Thr) single nucleotide variant not specified [RCV004679570] Chr3:52516569 [GRCh38]
Chr3:52550585 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.4273G>A (p.Asp1425Asn) single nucleotide variant not specified [RCV004679571] Chr3:52516574 [GRCh38]
Chr3:52550590 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3401A>G (p.Gln1134Arg) single nucleotide variant not specified [RCV004679572] Chr3:52513935 [GRCh38]
Chr3:52547951 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.610T>C (p.Cys204Arg) single nucleotide variant not specified [RCV004679573] Chr3:52503025 [GRCh38]
Chr3:52537041 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_015136.3(STAB1):c.3377C>T (p.Pro1126Leu) single nucleotide variant not specified [RCV004679574] Chr3:52513911 [GRCh38]
Chr3:52547927 [GRCh37]
Chr3:3p21.1		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR7-2hsa-miR-7-5pOncomiRDBexternal_infoNANA21743493
MIR7-1hsa-miR-7-5pOncomiRDBexternal_infoNANA21743493
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA21743493

Predicted Target Of
Summary Value
Count of predictions:2713
Count of miRNA genes:902
Interacting mature miRNAs:1133
Transcripts:ENST00000321725, ENST00000461325, ENST00000462681, ENST00000462741, ENST00000469989, ENST00000479355, ENST00000481607, ENST00000481626, ENST00000484850
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407119045GWAS768021_Hsmoking status measurement QTL GWAS768021 (human)4e-08smoking status measurement35250249852502499Human
406947648GWAS596624_Hprotein measurement QTL GWAS596624 (human)1e-41protein measurement35251045452510455Human
406987843GWAS636819_Hneuroticism measurement QTL GWAS636819 (human)2e-10neuroticism measurement35251280452512805Human
407052736GWAS701712_HL lactate dehydrogenase measurement QTL GWAS701712 (human)1e-11L lactate dehydrogenase measurement35251755052517551Human
407048523GWAS697499_Hhigh density lipoprotein cholesterol measurement QTL GWAS697499 (human)9e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35249810252498103Human
406934858GWAS583834_Hneuroticism measurement QTL GWAS583834 (human)1e-08neuroticism measurement35251280452512805Human
407356247GWAS1005223_Hbrain measurement QTL GWAS1005223 (human)9e-28brain measurementbrain measurement (CMO:0000911)35252399252523993Human
407376729GWAS1025705_Hblood protein measurement QTL GWAS1025705 (human)1e-88blood protein measurementblood protein measurement (CMO:0000028)35252399252523993Human
407173715GWAS822691_Hblood protein measurement QTL GWAS822691 (human)2e-12blood protein measurementblood protein measurement (CMO:0000028)35251280452512805Human
407304156GWAS953132_Hlean body mass QTL GWAS953132 (human)2e-13body lean mass (VT:0010483)total body lean mass (CMO:0003950)35252235352522354Human
407311580GWAS960556_HBMI-adjusted waist circumference QTL GWAS960556 (human)1e-11BMI-adjusted waist-hip ratio35249810252498103Human
407070943GWAS719919_Hurinary albumin to creatinine ratio QTL GWAS719919 (human)4e-09urinary albumin to creatinine ratiourine albumin level to urine creatinine level ratio (CMO:0000384)35250675752506758Human
407222887GWAS871863_Hacute myeloid leukemia QTL GWAS871863 (human)7e-08acute myeloid leukemia35250229252502293Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
406954213GWAS603189_Hhematocrit QTL GWAS603189 (human)1e-09hematocrithematocrit (CMO:0000037)35250675752506758Human
406990694GWAS639670_Hdepressive symptom measurement QTL GWAS639670 (human)3e-10wellbeing measurement35251280452512805Human
407111009GWAS759985_Hcognitive function measurement QTL GWAS759985 (human)1e-10cognitive function measurement35252287452522875Human
407099876GWAS748852_Hneuroticism measurement QTL GWAS748852 (human)2e-08neuroticism measurement35251280452512805Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
407309803GWAS958779_Hlow density lipoprotein cholesterol measurement QTL GWAS958779 (human)4e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)35252411752524118Human
407281640GWAS930616_Hmemory performance QTL GWAS930616 (human)0.0000003memory performance35250890352508904Human
407319273GWAS968249_Hhigh density lipoprotein cholesterol measurement QTL GWAS968249 (human)2e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35251191052511911Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human
406986231GWAS635207_Hferritin measurement QTL GWAS635207 (human)3e-19ferritin measurement35250537952505380Human
407284080GWAS933056_Hmemory performance QTL GWAS933056 (human)5e-10memory performance35251280452512805Human
406933238GWAS582214_Hanxiety QTL GWAS582214 (human)2e-09anxiety35252287452522875Human
407209596GWAS858572_Hcognitive function measurement QTL GWAS858572 (human)5e-11cognitive function measurement35251724952517250Human
407341179GWAS990155_HBMI-adjusted waist-hip ratio QTL GWAS990155 (human)3e-19BMI-adjusted waist-hip ratio35251726852517269Human
407341178GWAS990154_HBMI-adjusted waist-hip ratio QTL GWAS990154 (human)5e-09BMI-adjusted waist-hip ratio35250428452504285Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
407341176GWAS990152_HBMI-adjusted waist-hip ratio QTL GWAS990152 (human)1e-08BMI-adjusted waist-hip ratio35250229252502293Human
407334008GWAS982984_Hserum gamma-glutamyl transferase measurement QTL GWAS982984 (human)3e-14serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)35250890352508904Human
407037181GWAS686157_Hcognitive function measurement, self reported educational attainment QTL GWAS686157 (human)2e-10cognitive function measurement, self reported educational attainment35252287452522875Human
407061761GWAS710737_Hapolipoprotein A 1 measurement QTL GWAS710737 (human)1e-15apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)35249810252498103Human
407053318GWAS702294_HL lactate dehydrogenase measurement QTL GWAS702294 (human)1e-61L lactate dehydrogenase measurement35251755052517551Human
407184771GWAS833747_Hbody mass index QTL GWAS833747 (human)9e-11body mass indexbody mass index (BMI) (CMO:0000105)35250249852502499Human
407344640GWAS993616_Htriglyceride measurement QTL GWAS993616 (human)1e-16triglyceride measurementblood triglyceride level (CMO:0000118)35250229252502293Human
407281793GWAS930769_Hmemory performance QTL GWAS930769 (human)0.000001memory performance35251280452512805Human
407323279GWAS972255_Hhematocrit QTL GWAS972255 (human)2e-19hematocrithematocrit (CMO:0000037)35250890352508904Human
407354510GWAS1003486_HBMI-adjusted waist-hip ratio QTL GWAS1003486 (human)2e-08BMI-adjusted waist-hip ratio35250229252502293Human
407354509GWAS1003485_HBMI-adjusted waist-hip ratio QTL GWAS1003485 (human)2e-11BMI-adjusted waist-hip ratio35249810252498103Human
407212809GWAS861785_HHodgkins lymphoma QTL GWAS861785 (human)2e-12Hodgkins lymphoma35251953552519536Human
407183624GWAS832600_HBMI-adjusted waist circumference QTL GWAS832600 (human)1e-09BMI-adjusted waist circumference35250249852502499Human
407290507GWAS939483_HBMI-adjusted waist-hip ratio QTL GWAS939483 (human)5e-14BMI-adjusted waist-hip ratio35252399252523993Human
407072525GWAS721501_Hurinary albumin to creatinine ratio QTL GWAS721501 (human)2e-08urinary albumin to creatinine ratiourine albumin level to urine creatinine level ratio (CMO:0000384)35250675752506758Human
407061260GWAS710236_Hintelligence QTL GWAS710236 (human)6e-10intelligence35250249852502499Human
407343752GWAS992728_Hurate measurement QTL GWAS992728 (human)2e-13urate measurementblood uric acid level (CMO:0000501)35252028852520289Human
407110420GWAS759396_Hwaist-hip ratio QTL GWAS759396 (human)1e-12waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)35250229252502293Human
407311767GWAS960743_HBMI-adjusted waist circumference QTL GWAS960743 (human)3e-08BMI-adjusted waist circumference35250428452504285Human
407323799GWAS972775_HBMI-adjusted waist-hip ratio QTL GWAS972775 (human)2e-19BMI-adjusted waist-hip ratio35252399252523993Human
406954131GWAS603107_Hmetabolite measurement QTL GWAS603107 (human)4e-08metabolite measurement35251795752517958Human
407370261GWAS1019237_Hbrain measurement QTL GWAS1019237 (human)7e-15brain measurementbrain measurement (CMO:0000911)35252399252523993Human
407358737GWAS1007713_HBMI-adjusted waist circumference QTL GWAS1007713 (human)1e-08BMI-adjusted waist circumference35250428452504285Human
407354513GWAS1003489_HBMI-adjusted waist-hip ratio QTL GWAS1003489 (human)6e-20BMI-adjusted waist-hip ratio35251726852517269Human
407358736GWAS1007712_HBMI-adjusted waist circumference QTL GWAS1007712 (human)5e-08BMI-adjusted waist circumference35249810252498103Human
407354512GWAS1003488_HBMI-adjusted waist-hip ratio QTL GWAS1003488 (human)3e-09BMI-adjusted waist-hip ratio35250428452504285Human
406915734GWAS564710_Hbody height QTL GWAS564710 (human)9e-13body height (VT:0001253)body height (CMO:0000106)35252302252523023Human
407074708GWAS723684_Hadiponectin measurement QTL GWAS723684 (human)3e-21adiponectin measurementblood adiponectin level (CMO:0000485)35252399252523993Human
407322000GWAS970976_Htotal cholesterol measurement QTL GWAS970976 (human)7e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)35252411752524118Human
406988571GWAS637547_Hwellbeing measurement QTL GWAS637547 (human)1e-09wellbeing measurement35251280452512805Human
407323804GWAS972780_HBMI-adjusted waist-hip ratio QTL GWAS972780 (human)0.0000007BMI-adjusted waist-hip ratio35252399252523993Human
407080607GWAS729583_Htriglyceride measurement QTL GWAS729583 (human)0.000007triglyceride measurementblood triglyceride level (CMO:0000118)35249588352495884Human
406968221GWAS617197_Hhemoglobin measurement QTL GWAS617197 (human)1e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)35250675752506758Human
407166872GWAS815848_Hcortical thickness QTL GWAS815848 (human)1e-17cortical thickness35252194152521942Human
407099295GWAS748271_Hintelligence QTL GWAS748271 (human)4e-10intelligence35252287452522875Human
407323803GWAS972779_HBMI-adjusted waist-hip ratio QTL GWAS972779 (human)0.0000002BMI-adjusted waist-hip ratio35252399252523993Human
407323160GWAS972136_Hhigh density lipoprotein cholesterol measurement QTL GWAS972136 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35250229252502293Human
406940958GWAS589934_Hmetalloproteinase inhibitor 2 measurement QTL GWAS589934 (human)2e-27metalloproteinase inhibitor 2 measurement35251045452510455Human
407292582GWAS941558_Hlow density lipoprotein cholesterol measurement QTL GWAS941558 (human)1e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)35252411752524118Human
407080610GWAS729586_Htriglyceride measurement QTL GWAS729586 (human)0.000001triglyceride measurementblood triglyceride level (CMO:0000118)35249810252498103Human
407354534GWAS1003510_Hbody mass index QTL GWAS1003510 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)35252399252523993Human
407080609GWAS729585_Htriglyceride measurement QTL GWAS729585 (human)0.000009triglyceride measurementblood triglyceride level (CMO:0000118)35249810252498103Human
407084321GWAS733297_Hworry measurement QTL GWAS733297 (human)4e-11worry measurement35250723752507238Human
407080608GWAS729584_Htriglyceride measurement QTL GWAS729584 (human)0.000001triglyceride measurementblood triglyceride level (CMO:0000118)35249588352495884Human
407203622GWAS852598_Hexecutive function measurement QTL GWAS852598 (human)2e-09executive function measurement35251724952517250Human
407338147GWAS987123_Htriglyceride measurement QTL GWAS987123 (human)5e-11triglyceride measurementblood triglyceride level (CMO:0000118)35251726852517269Human
407323169GWAS972145_HBMI-adjusted waist-hip ratio QTL GWAS972145 (human)5e-18BMI-adjusted waist-hip ratio35252399252523993Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
407268907GWAS917883_HBMI-adjusted waist-hip ratio QTL GWAS917883 (human)2e-14BMI-adjusted waist-hip ratio35252399252523993Human
407035308GWAS684284_Hunipolar depression QTL GWAS684284 (human)0.0000001unipolar depression35250675752506758Human
406999341GWAS648317_HBMI-adjusted waist circumference QTL GWAS648317 (human)1e-10BMI-adjusted waist circumference35250428452504285Human
407264297GWAS913273_Hpulse pressure measurement QTL GWAS913273 (human)1e-10pulse pressure measurementpulse pressure (CMO:0000292)35250890352508904Human
407373497GWAS1022473_Hblood protein measurement QTL GWAS1022473 (human)8e-49blood protein measurementblood protein measurement (CMO:0000028)35252399252523993Human
406967475GWAS616451_Hhigh density lipoprotein cholesterol measurement QTL GWAS616451 (human)1e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35249810252498103Human
407419067GWAS1068043_Hpulse pressure measurement QTL GWAS1068043 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)35252399252523993Human
406894397GWAS543373_Hhigh density lipoprotein cholesterol measurement QTL GWAS543373 (human)6e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35249588352495884Human
407354810GWAS1003786_Hbrain measurement QTL GWAS1003786 (human)1e-12brain measurementbrain measurement (CMO:0000911)35252399252523993Human
406894398GWAS543374_Hhigh density lipoprotein cholesterol measurement QTL GWAS543374 (human)2e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)35249588352495884Human

Markers in Region
SHGC-76998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,558,360 - 52,558,491UniSTSGRCh37
Build 36352,533,400 - 52,533,531RGDNCBI36
Celera352,537,819 - 52,537,950RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,621,235 - 52,621,366UniSTS
GeneMap99-GB4 RH Map3162.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2361 2788 2232 4882 1709 2208 5 613 1472 450 2208 6731 5996 25 3697 1 812 1691 1489 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB052956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB052957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ275213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE242606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI001474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ013242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321725   ⟹   ENSP00000312946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,495,338 - 52,524,495 (+)Ensembl
Ensembl Acc Id: ENST00000461325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,516,178 - 52,520,246 (+)Ensembl
Ensembl Acc Id: ENST00000462681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,521,568 - 52,523,323 (+)Ensembl
Ensembl Acc Id: ENST00000462741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,521,361 - 52,524,493 (+)Ensembl
Ensembl Acc Id: ENST00000469989   ⟹   ENSP00000418426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,523,278 - 52,524,495 (+)Ensembl
Ensembl Acc Id: ENST00000479355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,495,369 - 52,501,630 (+)Ensembl
Ensembl Acc Id: ENST00000481607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,495,359 - 52,508,543 (+)Ensembl
Ensembl Acc Id: ENST00000481626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,518,801 - 52,523,476 (+)Ensembl
Ensembl Acc Id: ENST00000484850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,507,961 - 52,509,476 (+)Ensembl
RefSeq Acc Id: NM_015136   ⟹   NP_055951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
GRCh37352,529,354 - 52,558,512 (+)NCBI
Build 36352,504,396 - 52,533,551 (+)NCBI Archive
HuRef352,591,899 - 52,621,386 (+)ENTREZGENE
CHM1_1352,481,711 - 52,510,878 (+)NCBI
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264973   ⟹   XP_005265030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
GRCh37352,529,354 - 52,558,512 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264974   ⟹   XP_005265031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
GRCh37352,529,354 - 52,558,512 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713065   ⟹   XP_006713128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,518,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447774   ⟹   XP_047303730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
RefSeq Acc Id: XM_047447775   ⟹   XP_047303731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
RefSeq Acc Id: XM_047447776   ⟹   XP_047303732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,524,495 (+)NCBI
RefSeq Acc Id: XM_047447777   ⟹   XP_047303733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,522,454 (+)NCBI
RefSeq Acc Id: XM_054345815   ⟹   XP_054201790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
RefSeq Acc Id: XM_054345816   ⟹   XP_054201791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
RefSeq Acc Id: XM_054345817   ⟹   XP_054201792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
RefSeq Acc Id: XM_054345818   ⟹   XP_054201793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
RefSeq Acc Id: XM_054345819   ⟹   XP_054201794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,557,403 (+)NCBI
RefSeq Acc Id: XM_054345820   ⟹   XP_054201795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,555,362 (+)NCBI
RefSeq Acc Id: XM_054345821   ⟹   XP_054201796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,528,236 - 52,551,510 (+)NCBI
Protein Sequences
Protein RefSeqs NP_055951 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265030 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265031 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713128 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303730 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303731 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303732 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303733 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201794 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201795 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201796 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ABG91068 (Get FASTA)   NCBI Sequence Viewer  
  BAA13377 (Get FASTA)   NCBI Sequence Viewer  
  BAC15606 (Get FASTA)   NCBI Sequence Viewer  
  BAC15607 (Get FASTA)   NCBI Sequence Viewer  
  BAG52762 (Get FASTA)   NCBI Sequence Viewer  
  CAB61827 (Get FASTA)   NCBI Sequence Viewer  
  EAW65232 (Get FASTA)   NCBI Sequence Viewer  
  EAW65233 (Get FASTA)   NCBI Sequence Viewer  
  EAW65234 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312946
  ENSP00000312946.6
  ENSP00000418426.1
GenBank Protein Q9NY15 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055951   ⟸   NM_015136
- Peptide Label: precursor
- UniProtKB: Q8IUH1 (UniProtKB/Swiss-Prot),   Q8IUH0 (UniProtKB/Swiss-Prot),   A7E297 (UniProtKB/Swiss-Prot),   Q93072 (UniProtKB/Swiss-Prot),   Q9NY15 (UniProtKB/Swiss-Prot),   Q0PNF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265030   ⟸   XM_005264973
- Peptide Label: isoform X1
- UniProtKB: Q0PNF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265031   ⟸   XM_005264974
- Peptide Label: isoform X2
- UniProtKB: Q0PNF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713128   ⟸   XM_006713065
- Peptide Label: isoform X7
- Sequence:
Ensembl Acc Id: ENSP00000312946   ⟸   ENST00000321725
Ensembl Acc Id: ENSP00000418426   ⟸   ENST00000469989
RefSeq Acc Id: XP_047303731   ⟸   XM_047447775
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303732   ⟸   XM_047447776
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303730   ⟸   XM_047447774
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303733   ⟸   XM_047447777
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054201790   ⟸   XM_054345815
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201791   ⟸   XM_054345816
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201793   ⟸   XM_054345818
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054201794   ⟸   XM_054345819
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054201792   ⟸   XM_054345817
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054201795   ⟸   XM_054345820
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054201796   ⟸   XM_054345821
- Peptide Label: isoform X7
Protein Domains
EGF-like   FAS1   Laminin EGF-like   Link

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY15-F1-model_v2 AlphaFold Q9NY15 1-2570 view protein structure

Promoters
RGD ID:6864658
Promoter ID:EPDNEW_H5494
Type:initiation region
Name:STAB1_1
Description:stabilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,495,338 - 52,495,398EPDNEW
RGD ID:6801737
Promoter ID:HG_KWN:45234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_015136,   UC003DEI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,504,136 - 52,504,636 (+)MPROMDB
RGD ID:6801048
Promoter ID:HG_KWN:45235
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003DEK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,527,606 - 52,528,106 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18628 AgrOrtholog
COSMIC STAB1 COSMIC
Ensembl Genes ENSG00000010327 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321725 ENTREZGENE
  ENST00000321725.10 UniProtKB/Swiss-Prot
  ENST00000469989.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.180.10 UniProtKB/Swiss-Prot
  3.10.100.10 UniProtKB/Swiss-Prot
  FAS1 domain UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mannose-Binding Protein A, subunit A UniProtKB/TrEMBL
  Tie2 ligand-binding domain superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000010327 GTEx
HGNC ID HGNC:18628 ENTREZGENE
Human Proteome Map STAB1 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  EGF_dom UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  EGF_laminin UniProtKB/Swiss-Prot
  FAS1_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LE_dom UniProtKB/TrEMBL
  Link UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS_Receptors/PDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23166 UniProtKB/Swiss-Prot
NCBI Gene 23166 ENTREZGENE
OMIM 608560 OMIM
PANTHER STABILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STABILIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fasciclin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xlink UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38610 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LINK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP BIgH3_FAS1 UniProtKB/Swiss-Prot
  C-type lectin-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1 domain UniProtKB/TrEMBL
UniProt A7E297 ENTREZGENE
  H7C4W7_HUMAN UniProtKB/TrEMBL
  Q0PNF2 ENTREZGENE, UniProtKB/TrEMBL
  Q8IUH0 ENTREZGENE
  Q8IUH1 ENTREZGENE
  Q93072 ENTREZGENE
  Q9NY15 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A7E297 UniProtKB/Swiss-Prot
  Q8IUH0 UniProtKB/Swiss-Prot
  Q8IUH1 UniProtKB/Swiss-Prot
  Q93072 UniProtKB/Swiss-Prot