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Details for SRD5A2:p.Arg227Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
31754395	31529325

VARIANT EFFECT

unknown

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg227Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000474	0.0	0.0	0.0	0.006525	0.0	8.862e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.775865	None

DBSNP ID

2 combinations linked to SRD5A2:p.Arg227Gln

3 diseases linked to SRD5A2:p.Arg227Gln

Non-syndromic posterior hypospadias; 46,XY disorder of sex development; 46,XY partial gonadal dysgenesis

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