Details for SLC26A4:c.1286C>A, p.Ala429Glu

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107334870107694425
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC26A4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000441.1
CDNA CHANGE c.1286C>A
PROTEIN CHANGE p.Ala429Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.392e-050.00.00.00.00032630.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.749329Polymorphism
DBSNP ID rs753269996
2 combinations linked to SLC26A4:c.1286C>A, p.Ala429Glu OLI1173; OLI566
1 disease linked to SLC26A4:c.1286C>A, p.Ala429Glu Congenital hypothyroidism
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