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Details for GSDME:c.456T>G, p.Asn152Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
24758786	24719167

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.456T>G

PROTEIN CHANGE

p.Asn152Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001117	0.0	0.0	0.0	0.0007613	0.0	5.291e-05	0.0	0.0002613

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.769945	Polymorphism

DBSNP ID

1 combination linked to GSDME:c.456T>G, p.Asn152Lys

1 disease linked to GSDME:c.456T>G, p.Asn152Lys

Rare genetic deafness

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