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Details for HSD17B3:c.641A>G, p.Glu214Gly

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
99006642	96244360

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.641A>G

PROTEIN CHANGE

p.Glu214Gly

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	2.637e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.203242	Polymorphism

DBSNP ID

1 combination linked to HSD17B3:c.641A>G, p.Glu214Gly

1 disease linked to HSD17B3:c.641A>G, p.Glu214Gly

46,XY disorder of sex development

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