chr9:127262549:CAGCTGCAG> Detail (hg19) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,262,549-127,262,557
hg38 chr9:124,500,270-124,500,278 

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.682_690delCTGCAGCTG NP_004950.2:p.Leu231_Leu233del
Ensemble ENST00000373588.9:c.682_690delCTGCAGCTG ENST00000373588.9:p.Leu231_Leu233del
ENST00000620110.4:c.682_690delCTGCAGCTG ENST00000620110.4:p.Leu231_Leu233del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 PREMATURE OVARIAN FAILURE 7 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs606231208 dbSNP
Genome
hg19
Position
chr9:127,262,549-127,262,557
Variant Type
snv
Reference Allele
CAGCTGCAG
Alternative Allele
-
Genome browser