Details for SLC26A4:c.1975G>C, p.Val659Leu

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107342443107701998
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SLC26A4
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1975G>C
PROTEIN CHANGE p.Val659Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.962e-060.00.00.00.00010880.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.866962Disease causing
DBSNP ID NA
1 combination linked to SLC26A4:c.1975G>C, p.Val659Leu OLI939
1 disease linked to SLC26A4:c.1975G>C, p.Val659Leu Pendred syndrome
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