MYO18B, myosin XVIIIB, 84700

N. diseases: 63; N. variants: 26
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1266420848
rs1266420848
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.010 GeneticVariation BEFREE We identified novel constitutional compound heterozygous frameshift variants (NM_032608.5: p.Leu2257SerfsTer16 and p.Arg2220SerfsTer74) each encoding a premature stop of translation in MYO18B, consistent with a diagnosis of KFS. 31195167 2019