Details for SLC26A4:p.Gly6Val

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107302103107661658
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC26A4
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Gly6Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0080.00.00.00.00.0409

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0024810.00010480.00.0031860.00.00010617.68e-050.002290.01576

ESP
AAEA
0.00.0001269
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.2495Polymorphism
DBSNP ID rs111033423
1 combination linked to SLC26A4:p.Gly6Val OLI586
1 disease linked to SLC26A4:p.Gly6Val Congenital hypothyroidism
Found any issues with the data on this page? Report this entry.