Details for SMAD6:c.1455dupC, p.Cys486LeufsTer79

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
6707383366781495
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE SMAD6
REFERENCE ALLELE G
ALTERNATE ALLELE GC
TRANSCRIPT NM_005585.4
CDNA CHANGE c.1455dupC
PROTEIN CHANGE p.Cys486LeufsTer79
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.854751Disease causing
DBSNP ID NA
1 combination linked to SMAD6:c.1455dupC, p.Cys486LeufsTer79 OLI574
1 disease linked to SMAD6:c.1455dupC, p.Cys486LeufsTer79 Disorder of sex development
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