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Details for DEAF1:c.674G>T, p.Gly225Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
686988	686988

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.674G>T

PROTEIN CHANGE

p.Gly225Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.842802	None

DBSNP ID

1 combination linked to DEAF1:c.674G>T, p.Gly225Val

1 disease linked to DEAF1:c.674G>T, p.Gly225Val

Rare pervasive developmental disorder

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