Details for CELSR1:c.8807C>T, p.Pro2936Leu

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4676012146364224
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014246.1
CDNA CHANGE c.8807C>T
PROTEIN CHANGE p.Pro2936Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.454e-050.00.00.00010060.00.04.554e-050.00.0

ESP
AAEA
0.00.0001164
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.928894Disease causing
DBSNP ID rs201509338
1 combination linked to CELSR1:c.8807C>T, p.Pro2936Leu OLI710
1 disease linked to CELSR1:c.8807C>T, p.Pro2936Leu Isolated anencephaly
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