Details for DCHS1:c.4072G>A, p.Glu1358Lys

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
66519536630722
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCHS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003737.3
CDNA CHANGE c.4072G>A
PROTEIN CHANGE p.Glu1358Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0025030.00031080.00081570.0052170.00.007130.0038610.0023990.0

ESP
AAEA
0.00.001393
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.070412Polymorphism
DBSNP ID rs184586428
1 combination linked to DCHS1:c.4072G>A, p.Glu1358Lys OLI697
1 disease linked to DCHS1:c.4072G>A, p.Glu1358Lys Craniorachischisis
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