Details for SLC26A4:c.1229C>A, p.Thr410Lys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107330648107690203
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE SLC26A4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000441.1
CDNA CHANGE c.1229C>A
PROTEIN CHANGE p.Thr410Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.932856Disease causing
DBSNP ID rs111033220
1 combination linked to SLC26A4:c.1229C>A, p.Thr410Lys OLI317
1 disease linked to SLC26A4:c.1229C>A, p.Thr410Lys Pendred syndrome
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