chr9:124500196:C>A Detail (hg38) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,262,475-127,262,475 View the variant detail on this assembly version.
hg38 chr9:124,500,196-124,500,196

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.764G>T NP_004950.2:p.Arg255Leu
Ensemble ENST00000373588.9:c.764G>T ENST00000373588.9:p.Arg255Leu
ENST00000620110.4:c.764G>T ENST00000620110.4:p.Arg255Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 184757 OMIM
HGNC 7983 HGNC
Ensembl ENSG00000136931 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3728200 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-12-01 no assertion criteria provided ADRENAL INSUFFICIENCY, NR5A1-RELATED germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 gonadal dysgenesis Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... BeFree 15472171 Detail
0.004 adrenal cortical hypofunction Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... BeFree 15472171 Detail
0.128 Adrenal gland hypofunction Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... BeFree 15472171 Detail
0.006 Turner syndrome Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... BeFree 15472171 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.5(NR5A1):c.764G>T (p.Arg255Leu) AND ADRENAL INSUFFICIENCY, NR5A1-RELATED ClinVar Detail
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... DisGeNET Detail
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... DisGeNET Detail
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... DisGeNET Detail
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104894118 dbSNP
Genome
hg38
Position
chr9:124,500,196-124,500,196
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7344
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
101234
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.9756208388486082E-5
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