Details for CELSR1:c.8459A>G, p.Tyr2820Cys

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4676122346365326
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CELSR1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_014246.4
CDNA CHANGE c.8459A>G
PROTEIN CHANGE p.Tyr2820Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8e-060.00.00.00.00.00.00.06.537e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.685217Polymorphism
DBSNP ID rs773366645
1 combination linked to CELSR1:c.8459A>G, p.Tyr2820Cys OLI686
1 disease linked to CELSR1:c.8459A>G, p.Tyr2820Cys Holoprosencephaly
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