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Details for EZH2:c.688A>G, p.Met230Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
148524296	148827204

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.688A>G

PROTEIN CHANGE

p.Met230Val

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
3.98e-06	0.0	0.0	0.0	0.0	0.0	8.797e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.384386	Disease causing

DBSNP ID

1 combination linked to EZH2:c.688A>G, p.Met230Val

1 disease linked to EZH2:c.688A>G, p.Met230Val

Transposition of the great arteries

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