chr9:124503378:G> Detail (hg38) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,265,657-127,265,657 
hg38 chr9:124,503,378-124,503,378

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.18delC NP_004950.2:p.Asp6GlufsTer69
Ensemble ENST00000373588.9:c.18delC ENST00000373588.9:p.Asp6GlufsTer69
ENST00000620110.4:c.18delC ENST00000620110.4:p.Asp6GlufsTer69
Summary

MGeND

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

Frequency

[No Data.]

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
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 2004-12-01 no assertion criteria provided 46,XY sex reversal 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.246 46, XY Disorders of Sex Development NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.5(NR5A1):c.18del (p.Asp6fs) AND 46,XY sex reversal 3 ClinVar Detail
NA 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
rs606231205 dbSNP
Genome
hg38
Position
chr9:124,503,378-124,503,378
Variant Type
snv
Reference Allele
G
Alternative Allele
-
Genome browser