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Details for PARP14:c.2906C>G, p.Ala969Gly

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
122420307	122701460

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2906C>G

PROTEIN CHANGE

p.Ala969Gly

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	Benign	2.521408	Polymorphism

DBSNP ID

1 combination linked to PARP14:c.2906C>G, p.Ala969Gly

1 disease linked to PARP14:c.2906C>G, p.Ala969Gly

Rare pervasive developmental disorder

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