Details for BHMT:c.1082G>A, p.Arg361Gln

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
7842680079130977
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BHMT
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001713.2
CDNA CHANGE c.1082G>A
PROTEIN CHANGE p.Arg361Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00034240.00012312.899e-050.05.442e-050.03.519e-050.00032630.002487

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.448302Polymorphism
DBSNP ID rs556850126
1 combination linked to BHMT:c.1082G>A, p.Arg361Gln OLI719
1 disease linked to BHMT:c.1082G>A, p.Arg361Gln Isolated anencephaly
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