PGM2L1 c.248T>C ;(p.I83T)

Variant ID: 11-74085491-A-G

NM_173582.3(PGM2L1):c.248T>C;(p.I83T)

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:

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: PGM2L1: I83T
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page