Details for FTCD:c.643C>T, p.Arg215Cys

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4757043346150519
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FTCD
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_006657.2
CDNA CHANGE c.643C>T
PROTEIN CHANGE p.Arg215Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00080.00140.00.0060.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0017750.00086350.0010120.00.00.00064680.0032170.0029390.0

ESP
AAEA
0.00090790.003838
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.770685Polymorphism
DBSNP ID rs149667449
2 combinations linked to FTCD:c.643C>T, p.Arg215Cys OLI703; OLI724
1 disease linked to FTCD:c.643C>T, p.Arg215Cys Isolated anencephaly
Found any issues with the data on this page? Report this entry.