Details for TRPM4:c.2531G>A, p.Gly844Asp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4970001749196760
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TRPM4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_017636.3
CDNA CHANGE c.2531G>A
PROTEIN CHANGE p.Gly844Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00720.0010.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010490.00036430.0013270.00.00.00054260.0016810.0024470.0

ESP
AAEA
0.00.001553
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.577407Disease causing
DBSNP ID rs200038418
1 combination linked to TRPM4:c.2531G>A, p.Gly844Asp OLI183
1 disease linked to TRPM4:c.2531G>A, p.Gly844Asp Brugada syndrome
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