Details for SMURF1:c.585C>G, p.Cys195Trp

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
9864996499052341
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SMURF1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001199847.1
CDNA CHANGE c.585C>G
PROTEIN CHANGE p.Cys195Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00430.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00037950.00012310.00070410.00.00.00.0005810.00032913.305e-05

ESP
AAEA
0.00.0004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.955475Polymorphism
DBSNP ID rs201268508
1 combination linked to SMURF1:c.585C>G, p.Cys195Trp OLI701
1 disease linked to SMURF1:c.585C>G, p.Cys195Trp Isolated anencephaly
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