Details for DCHS1:c.7384C>T, p.Arg2462Trp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
66455236624292
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCHS1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003737.3
CDNA CHANGE c.7384C>T
PROTEIN CHANGE p.Arg2462Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.379e-057.822e-050.00.00.00019360.00.00016050.03.623e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.305052Polymorphism
DBSNP ID rs202186111
1 combination linked to DCHS1:c.7384C>T, p.Arg2462Trp OLI707
1 disease linked to DCHS1:c.7384C>T, p.Arg2462Trp Isolated anencephaly
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