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Details for SRD5A2:c.265C>G, p.Leu89Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
31805706	31580636

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.265C>G

PROTEIN CHANGE

p.Leu89Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.3478	0.7693	0.6643	0.4792	0.7207	0.593

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.6593	0.7458	0.6161	0.7591	0.4464	0.6965	0.6965	0.6891	0.6117

ESP
AA	EA
0.7554	0.71

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	None	None

DBSNP ID

1 combination linked to SRD5A2:c.265C>G, p.Leu89Val

2 diseases linked to SRD5A2:c.265C>G, p.Leu89Val

Androgen insensitivity syndrome; 46,XY disorder of sex development

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