Details for CELSR2:c.3041T>A, p.Leu1014His

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
109795742109253120
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR2
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_001408.2
CDNA CHANGE c.3041T>A
PROTEIN CHANGE p.Leu1014His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00430.00.0060.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0033780.00073860.0022560.0022830.00.00097010.0055970.0034240.001894

ESP
AAEA
0.00090790.006628
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.712424Polymorphism
DBSNP ID rs115856488
1 combination linked to CELSR2:c.3041T>A, p.Leu1014His OLI747
1 disease linked to CELSR2:c.3041T>A, p.Leu1014His Isolated anencephaly
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