RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
Disease: Peripheral demyelinating neuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1479452329
rs1479452329
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
CUI: C0270922
Disease:
Peripheral demyelinating neuropathy 		0.010 GeneticVariation BEFREE In this report, a novel missense mutation is presented in the LITAF gene (c.430G>A p.V144M) in a German CMT family exhibiting typical electrophysiological features of a demyelinating neuropathy with conduction blocks and variable age at onset. 19541485 2009