Details for SLC26A4:p.Glu29Gln

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107302171107661726
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC26A4
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu29Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.259e-050.00.00.00.00.00020040.00017760.0002170.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.63803Disease causing
DBSNP ID rs111033205
1 combination linked to SLC26A4:p.Glu29Gln OLI502
1 disease linked to SLC26A4:p.Glu29Gln Pendred syndrome

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