Details for CELSR1:c.7549G>A, p.Val2517Met

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4677299346377096
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014246.1
CDNA CHANGE c.7549G>A
PROTEIN CHANGE p.Val2517Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00.00.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.717145Polymorphism
DBSNP ID rs1261513383
2 combinations linked to CELSR1:c.7549G>A, p.Val2517Met OLI738; OLI749
1 disease linked to CELSR1:c.7549G>A, p.Val2517Met Isolated anencephaly
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