chr9:124493143:C>T Detail (hg38) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,255,422-127,255,422 View the variant detail on this assembly version.
hg38 chr9:124,493,143-124,493,143

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.877G>A NP_004950.2:p.Asp293Asn
Ensemble ENST00000620110.4:c.871-1915G>A
ENST00000373588.9:c.877G>A ENST00000373588.9:p.Asp293Asn
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 tgv364691523 TogoVar
COSMIC COSM5432841 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
0.005 gonadal dysgenesis Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 g... BeFree 20453312 Detail
0.013 Turner syndrome Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homoz... BeFree 20453312 Detail
0.006 Turner syndrome Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 g... BeFree 20453312 Detail
0.360 PREMATURE OVARIAN FAILURE 7 (disorder) NA CLINVAR Detail
0.128 Adrenal gland hypofunction Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homoz... BeFree 20453312 Detail
0.017 gonadal dysgenesis Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homoz... BeFree 20453312 Detail
0.246 46, XY Disorders of Sex Development NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) AND 46,XY sex reversal 3 ClinVar Detail
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) AND Premature ovarian failure 7 ClinVar Detail
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. DisGeNET Detail
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in th... DisGeNET Detail
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. DisGeNET Detail
NA DisGeNET Detail
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in th... DisGeNET Detail
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in th... 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
rs121918655 dbSNP
Genome
hg38
Position
chr9:124,493,143-124,493,143
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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