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Details for HSF1:c.430G>A, p.Val144Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
145533524	144309838

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.430G>A

PROTEIN CHANGE

p.Val144Met

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.801e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.761693	Polymorphism

DBSNP ID

1 combination linked to HSF1:c.430G>A, p.Val144Met

1 disease linked to HSF1:c.430G>A, p.Val144Met

Recurrent Pregnancy Loss

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