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Details for ZFPM2:c.2534C>T, p.Thr845Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
106814844	105802616

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2534C>T

PROTEIN CHANGE

p.Thr845Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.304e-05	0.0	2.968e-05	0.0	0.0	0.0	9.127e-06	0.0	0.0002022

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.066125	Polymorphism

DBSNP ID

1 combination linked to ZFPM2:c.2534C>T, p.Thr845Met

1 disease linked to ZFPM2:c.2534C>T, p.Thr845Met

46,XY disorder of sex development

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