Details for MYO18B:c.2879C>T, p.Ala960Val

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2622483525828868
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYO18B
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_032608.6
CDNA CHANGE c.2879C>T
PROTEIN CHANGE p.Ala960Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00048560.00025835.792e-059.936e-050.00.00.00026550.00082560.002582

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.894657Polymorphism
DBSNP ID rs147134820
1 combination linked to MYO18B:c.2879C>T, p.Ala960Val OLI790
1 disease linked to MYO18B:c.2879C>T, p.Ala960Val Arthrogryposis syndrome
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