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Details for NR5A1:c.502G>C, p.Ala168Pro

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127262737	124500458

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.502G>C

PROTEIN CHANGE

p.Ala168Pro

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.904e-06	0.0	3.24e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.337598	Polymorphism

DBSNP ID

1 combination linked to NR5A1:c.502G>C, p.Ala168Pro

1 disease linked to NR5A1:c.502G>C, p.Ala168Pro

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