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Details for SRD5A2:c.607G>A, p.Gly203Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
31754468	31529398

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.607G>A

PROTEIN CHANGE

p.Gly203Ser

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
9.242e-05	0.0	0.0	0.0	0.001003	0.0	3.548e-05	0.0	3.269e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.563901	Polymorphism

DBSNP ID

1 combination linked to SRD5A2:c.607G>A, p.Gly203Ser

1 disease linked to SRD5A2:c.607G>A, p.Gly203Ser

46,XY disorder of sex development

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