Details for SLC26A4:c.1003T>C, p.Phe335Leu

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
107329499107689054
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC26A4
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_000441.1
CDNA CHANGE c.1003T>C
PROTEIN CHANGE p.Phe335Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0010.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00085990.0001232.893e-050.0010920.00027199.241e-050.0010040.00081650.002483

ESP
AAEA
0.00.00186
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.932002Disease causing
DBSNP ID rs111033212
2 combinations linked to SLC26A4:c.1003T>C, p.Phe335Leu OLI242; OLI596
2 diseases linked to SLC26A4:c.1003T>C, p.Phe335Leu Pendred syndrome; Congenital hypothyroidism
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