Details for CELSR1:c.8282C>T, p.Ser2761Leu

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4676230146366404
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014246.1
CDNA CHANGE c.8282C>T
PROTEIN CHANGE p.Ser2761Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00080.00140.00.0020.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0024940.0013830.00089240.002370.00026590.0052750.0032020.0022860.002108

ESP
AAEA
0.00074960.003597
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.965707Disease causing
DBSNP ID rs144039991
1 combination linked to CELSR1:c.8282C>T, p.Ser2761Leu OLI758
1 disease linked to CELSR1:c.8282C>T, p.Ser2761Leu Isolated anencephaly
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