DOT1L c.3475G>C ;(p.D1159H)

Variant ID: 19-2223364-G-C

NM_032482.2(DOT1L):c.3475G>C;(p.D1159H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15

Variant appearance in text: rs377512955
PubMed Link: 30414346
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: DOT1L: D1159H; rs377512955
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 7
View BVdb publication page