Details for FZD1:c.211C>T, p.Arg71Trp

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
9089440691265091
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FZD1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003505.1
CDNA CHANGE c.211C>T
PROTEIN CHANGE p.Arg71Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00.00.00890.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0052690.00.0031570.00.00.0076520.0071880.0082780.0009398

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.158294Polymorphism
DBSNP ID rs574691354
1 combination linked to FZD1:c.211C>T, p.Arg71Trp OLI744
1 disease linked to FZD1:c.211C>T, p.Arg71Trp Isolated anencephaly
Found any issues with the data on this page? Report this entry.