Details for MITF:c.965delA, p.Asn322fs

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
7000563169956480
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MITF
REFERENCE ALLELE AA
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.965delA
PROTEIN CHANGE p.Asn322fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.960499Disease causing
DBSNP ID NA
1 combination linked to MITF:c.965delA, p.Asn322fs OLI917
1 disease linked to MITF:c.965delA, p.Asn322fs Waardenburg syndrome
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