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Details for GSDME:c.1349G>A, p.Arg450His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
24738787	24699168

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1349G>A

PROTEIN CHANGE

p.Arg450His

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
7.954e-06	0.0	0.0	0.0	0.0	0.0	8.793e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.082459	Polymorphism

DBSNP ID

1 combination linked to GSDME:c.1349G>A, p.Arg450His

1 disease linked to GSDME:c.1349G>A, p.Arg450His

Rare genetic deafness

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