Details for CELSR2:c.376C>A, p.Gln126Lys

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
109793077109250455
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001408.2
CDNA CHANGE c.376C>A
PROTEIN CHANGE p.Gln126Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00140.00.0050.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.003040.00055570.0017070.0010960.00.00092440.0053570.0027750.001307

ESP
AAEA
0.00068090.00593
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.626677Polymorphism
DBSNP ID rs62623708
1 combination linked to CELSR2:c.376C>A, p.Gln126Lys OLI734
1 disease linked to CELSR2:c.376C>A, p.Gln126Lys Craniorachischisis
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