Details for PDZD7:c.1750-2A>G,

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
102772017101012260
VARIANT EFFECT splicing
ANNOTATION FLAG automatically_attributed_and_verified
GENE PDZD7
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001195263.1
CDNA CHANGE c.1750-2A>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.76e-060.00.00.00.00.01.823e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.816371None
DBSNP ID rs747536638
1 combination linked to PDZD7:c.1750-2A>G, OLI121
1 disease linked to PDZD7:c.1750-2A>G, Usher syndrome type 2
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