Details for BHMT:c.595G>A, p.Gly199Ser

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
7841715879121335
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BHMT
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001713.2
CDNA CHANGE c.595G>A
PROTEIN CHANGE p.Gly199Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00240.00150.00140.00.0080.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0047570.002030.0021970.00029770.00.0053130.007880.0035840.001666

ESP
AAEA
0.0013620.007558
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.242368None
DBSNP ID rs59866108
2 combinations linked to BHMT:c.595G>A, p.Gly199Ser OLI726; OLI743
1 disease linked to BHMT:c.595G>A, p.Gly199Ser Isolated anencephaly
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