Details for MTHFD1:c.878G>A, p.Arg293His

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
6489247064425752
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MTHFD1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005956.3
CDNA CHANGE c.878G>A
PROTEIN CHANGE p.Arg293His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016740.00049250.00040480.0036710.00.0012010.0027350.0022820.0003593

ESP
AAEA
0.00090790.00314
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.11381Polymorphism
DBSNP ID rs34181110
1 combination linked to MTHFD1:c.878G>A, p.Arg293His OLI699
1 disease linked to MTHFD1:c.878G>A, p.Arg293His Isolated anencephaly
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