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Details for HSD17B3:c.139A>G, p.Met47Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
99064248	96301966

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.139A>G

PROTEIN CHANGE

p.Met47Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.363e-05	0.000123	2.891e-05	0.0	5.438e-05	4.619e-05	7.913e-05	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.878125	Polymorphism

DBSNP ID

1 combination linked to HSD17B3:c.139A>G, p.Met47Val

1 disease linked to HSD17B3:c.139A>G, p.Met47Val

46,XY disorder of sex development

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