Details for DCHS1:c.3158G>C, p.Trp1053Ser

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
66535856632354
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCHS1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_003737.3
CDNA CHANGE c.3158G>C
PROTEIN CHANGE p.Trp1053Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00080.00290.00.0050.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0035530.00098470.0034720.00059680.00.0020820.005880.0060443.266e-05

ESP
AAEA
0.00090870.006867
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.990363Polymorphism
DBSNP ID rs138340204
1 combination linked to DCHS1:c.3158G>C, p.Trp1053Ser OLI692
1 disease linked to DCHS1:c.3158G>C, p.Trp1053Ser Isolated anencephaly
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