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Details for SARDH:c.2345C>T, p.Ala782Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
136535856	133670734

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2345C>T

PROTEIN CHANGE

p.Ala782Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0	0.0144	0.0	0.004	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002853	0.0004946	0.005076	0.01399	0.0001167	5.352e-05	0.00319	0.003922	0.0006752

ESP
AA	EA
0.0006954	0.002943

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.920061	Polymorphism

DBSNP ID

1 combination linked to SARDH:c.2345C>T, p.Ala782Val

1 disease linked to SARDH:c.2345C>T, p.Ala782Val

Isolated anencephaly

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