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Details for TUBA8:c.967G>A, p.Val323Met

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
18609712	18126945

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.967G>A

PROTEIN CHANGE

p.Val323Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003271	0.0	0.0002899	0.0003001	0.0	0.0	0.0005646	0.0001637	0.0001312

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.159493	Polymorphism

DBSNP ID

1 combination linked to TUBA8:c.967G>A, p.Val323Met

1 disease linked to TUBA8:c.967G>A, p.Val323Met

Primary ovarian failure

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