Details for CELSR1:c.2860C>T, p.Arg954Cys

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4693020846534311
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CELSR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014246.4
CDNA CHANGE c.2860C>T
PROTEIN CHANGE p.Arg954Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.995e-060.00.00.00.00.00.00.03.267e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.196815Disease causing
DBSNP ID rs772804547
1 combination linked to CELSR1:c.2860C>T, p.Arg954Cys OLI684
1 disease linked to CELSR1:c.2860C>T, p.Arg954Cys Holoprosencephaly
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