Details for PDZD7:c.2194_2203del, p.Cys732LeufsTer18

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
102770442101010685
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE PDZD7
REFERENCE ALLELE GGGGGTGTGCA
ALTERNATE ALLELE G
TRANSCRIPT NM_001195263.2
CDNA CHANGE c.2194_2203del
PROTEIN CHANGE p.Cys732LeufsTer18
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.812072None
DBSNP ID NA
1 combination linked to PDZD7:c.2194_2203del, p.Cys732LeufsTer18 OLI122
1 disease linked to PDZD7:c.2194_2203del, p.Cys732LeufsTer18 Usher syndrome type 2
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