LMLN c.397G>C ;(p.V133L)

Variant ID: 3-197702948-G-C

NM_001136049.2(LMLN):c.397G>C;(p.V133L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function.

Bioresearch Open Access
Iida, Reiko R; Ueki, Misuzu M; Fujihara, Junko J; Takeshita, Haruo H; Kimura-Kataoka, Kaori K; Yasuda, Toshihiro T
Publication Date: 2013-12-01

Variant appearance in text: Msp: Val133Leu
PubMed Link: 24380054
Variant Present in the following documents:
  • Main text
View BVdb publication page