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Details for ZFPM2:c.3055G>T, p.Ala1019Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
106815365	105803137

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3055G>T

PROTEIN CHANGE

p.Ala1019Ser

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
1.606e-05	0.0	0.0	0.0	0.0	0.0	3.543e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.195972	Polymorphism

DBSNP ID

1 combination linked to ZFPM2:c.3055G>T, p.Ala1019Ser

1 disease linked to ZFPM2:c.3055G>T, p.Ala1019Ser

46,XY disorder of sex development

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