Details for CELSR1:c.8772G>C, p.Gln2924His

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4676041646364519
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_014246.1
CDNA CHANGE c.8772G>C
PROTEIN CHANGE p.Gln2924His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00027230.00.00.00.0036120.00.00.00016880.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.951363Polymorphism
DBSNP ID rs200116798
1 combination linked to CELSR1:c.8772G>C, p.Gln2924His OLI506
1 disease linked to CELSR1:c.8772G>C, p.Gln2924His Isolated spina bifida
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