chr9:127262605:C>T Detail (hg19) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,262,605-127,262,605
hg38 chr9:124,500,326-124,500,326 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.634G>A NP_004950.2:p.Gly212Ser
Ensemble ENST00000373588.9:c.634G>A ENST00000373588.9:p.Gly212Ser
ENST00000620110.4:c.634G>A ENST00000620110.4:p.Gly212Ser
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 2010-10-08 no assertion criteria provided spermatogenic failure 8 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 spermatogenic failure 8 NA CLINVAR Detail
0.240 spermatogenic failure 8 Human male infertility associated with mutations in NR5A1 encoding steroidogenic... UNIPROT 20887963 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) AND Spermatogenic failure 8 ClinVar Detail
NA DisGeNET Detail
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 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
rs201095702 dbSNP
Genome
hg19
Position
chr9:127,262,605-127,262,605
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser