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Details for MITF:c.824delA, p.Glu275GlyfsTer22

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
69998310	69949159

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.824delA

PROTEIN CHANGE

p.Glu275GlyfsTer22

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	4.916258	Disease causing

DBSNP ID

2 combinations linked to MITF:c.824delA, p.Glu275GlyfsTer22

1 disease linked to MITF:c.824delA, p.Glu275GlyfsTer22

Ocular albinism with congenital sensorineural deafness

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