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Details for MITF:c.718C>T, p.Arg347Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
70008431	69959280

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.718C>T

PROTEIN CHANGE

p.Arg347Cys

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
Deleterious	Damaging	4.551383	Disease causing

DBSNP ID

1 combination linked to MITF:c.718C>T, p.Arg347Cys

1 disease linked to MITF:c.718C>T, p.Arg347Cys

Non-syndromic genetic deafness

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