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Details for AKAP9:c.4351A>G, p.Met1451Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
91667745	92038431

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.4351A>G

PROTEIN CHANGE

p.Met1451Val

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
3.992e-06	0.0	0.0	0.0	0.0	0.0	8.836e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.457788	Polymorphism

DBSNP ID

1 combination linked to AKAP9:c.4351A>G, p.Met1451Val

1 disease linked to AKAP9:c.4351A>G, p.Met1451Val

Primary ovarian failure

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