Details for MYO7A:c.3904delT, p.Tyr1302fsTer97

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7690189477190849
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE MYO7A
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_000260.4
CDNA CHANGE c.3904delT
PROTEIN CHANGE p.Tyr1302fsTer97
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.275594Disease causing
DBSNP ID NA
1 combination linked to MYO7A:c.3904delT, p.Tyr1302fsTer97 OLI101
1 disease linked to MYO7A:c.3904delT, p.Tyr1302fsTer97 Usher syndrome type 1
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