LONP1 c.2463C>G ;(p.A821=)

Variant ID: 19-5693638-G-C

NM_004793.3(LONP1):c.2463C>G;(p.A821=)

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:

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01

Variant appearance in text: LONP1: A821A
PubMed Link: 20843780
Variant Present in the following documents:
  • supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page