CLN5 c.1000A>T ;(p.M334L)

Variant ID: 13-77575027-A-T

NM_006493.2(CLN5):c.1000A>T;(p.M334L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CLN5: M383L
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page