Details for SHMT1:c.571C>T, p.Arg191Cys

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
1824407618340762
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SHMT1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_004169.4
CDNA CHANGE c.571C>T
PROTEIN CHANGE p.Arg191Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00064230.00024990.00014520.00.04.647e-050.0012080.00016430.0004304

ESP
AAEA
0.00068090.0009302
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.138549Polymorphism
DBSNP ID rs148701087
1 combination linked to SHMT1:c.571C>T, p.Arg191Cys OLI743
1 disease linked to SHMT1:c.571C>T, p.Arg191Cys Isolated anencephaly
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