chr9:127265672:C>T Detail (hg19) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,265,672-127,265,672
hg38 chr9:124,503,393-124,503,393 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.3G>A NP_004950.2:p.?
Ensemble ENST00000373588.9:c.3G>A ENST00000373588.9:p.?
ENST00000620110.4:c.3G>A ENST00000620110.4:p.?
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-03-19 no assertion criteria provided 46,XY sex reversal 3 germline Detail
Pathogenic 2009-03-19 no assertion criteria provided Premature ovarian failure 7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 PREMATURE OVARIAN FAILURE 7 (disorder) NA CLINVAR Detail
0.246 46, XY Disorders of Sex Development NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) AND 46,XY sex reversal 3 ClinVar Detail
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) AND Premature ovarian failure 7 ClinVar Detail
NA DisGeNET 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
rs121918656 dbSNP
Genome
hg19
Position
chr9:127,265,672-127,265,672
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser