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Details for GJB2:c.299_300del, p.His100ArgfsTer14

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763420	20189281

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CAT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.299_300del

PROTEIN CHANGE

p.His100ArgfsTer14

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.42933	Disease causing

DBSNP ID

1 combination linked to GJB2:c.299_300del, p.His100ArgfsTer14

1 disease linked to GJB2:c.299_300del, p.His100ArgfsTer14

Rare genetic deafness

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