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Details for SARDH:c.1442G>A, p.Arg481His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
136573437	133708315

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1442G>A

PROTEIN CHANGE

p.Arg481His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008817	6.161e-05	0.001798	0.001897	0.0	0.0006481	0.0009889	0.001968	3.27e-05

ESP
AA	EA
0.0	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.172697	Disease causing

DBSNP ID

1 combination linked to SARDH:c.1442G>A, p.Arg481His

1 disease linked to SARDH:c.1442G>A, p.Arg481His

Isolated anencephaly

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