KMT2C c.9816A>G ;(p.Q3272=)

Variant ID: 7-151860846-T-C

NM_170606.2(KMT2C):c.9816A>G;(p.Q3272=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: KMT2C: Q3272Q; rs113138058
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s004.xlsx, sheet 1
View BVdb publication page



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: MLL3: Q3272Q; rs113138058
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page