Details for SLC26A4:p.Leu597Ser

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107341628107701183
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC26A4
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Leu597Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00860.00080.01010.00.0050.0307

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0083310.00160.0023150.020560.00010880.00060070.0075610.0075160.0281

ESP
AAEA
0.00090790.00907
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.068256Polymorphism
DBSNP ID rs55638457
2 combinations linked to SLC26A4:p.Leu597Ser OLI585; OLI590
1 disease linked to SLC26A4:p.Leu597Ser Congenital hypothyroidism
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