chr9:124500568:G>A Detail (hg38) (NR5A1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr9:127,262,847-127,262,847 View the variant detail on this assembly version.
hg38	chr9:124,500,568-124,500,568

HGVS

NR5A1

Type	Transcript	Protein
RefSeq	NM_004959.4:c.392C>T	NP_004950.2:p.Pro131Leu
Ensemble	ENST00000373588.9:c.392C>T	ENST00000373588.9:p.Pro131Leu
	ENST00000620110.4:c.392C>T	ENST00000620110.4:p.Pro131Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

NR5A1

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	tgv364691836	TogoVar
	COSMIC	COSM5032471	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

Annotation

Annotations

Descrption	Source	Links
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) AND Spermatogenic failure 8	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: rs387906690 dbSNP
Genome: hg38
Position: chr9:124,500,568-124,500,568
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8176
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 110194
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.53745212988003E-5

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