Details for DAAM1:c.3052C>T, p.Arg1018Cys

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
5983539259368674
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DAAM1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014992.2
CDNA CHANGE c.3052C>T
PROTEIN CHANGE p.Arg1018Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019596.171e-050.0011610.00.00.05.315e-050.00032860.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.072883Disease causing
DBSNP ID rs138713289
1 combination linked to DAAM1:c.3052C>T, p.Arg1018Cys OLI707
1 disease linked to DAAM1:c.3052C>T, p.Arg1018Cys Isolated anencephaly
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