Details for NKX2-1:c.1106C>T, p.Ala369Val

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
3698658336517378
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NKX2-1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001079668.3
CDNA CHANGE c.1106C>T
PROTEIN CHANGE p.Ala369Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00017060.00.00.00.0022910.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.488323Disease causing
DBSNP ID rs537209983
2 combinations linked to NKX2-1:c.1106C>T, p.Ala369Val OLI1084; OLI1502
1 disease linked to NKX2-1:c.1106C>T, p.Ala369Val Congenital hypothyroidism
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