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Details for EHMT1:c.1513G>A, p.Gly505Ser

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140657138	137762686

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1513G>A

PROTEIN CHANGE

p.Gly505Ser

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
4.375e-05	0.0	0.0	0.0	0.0	0.0	8.792e-06	0.0	0.0003266

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.904616	Polymorphism

DBSNP ID

1 combination linked to EHMT1:c.1513G>A, p.Gly505Ser

1 disease linked to EHMT1:c.1513G>A, p.Gly505Ser

Rare pervasive developmental disorder

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