KMT2D c.9602dup ;(p.S3202Efs*13)

Variant ID: 12-49431536-C-CA

NM_003482.3(KMT2D):c.9602dup;(p.S3202Efs*13)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KMT2D: 9602dup; Ser3202fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moccia, Amanda A; Srivastava, Anshika A; Skidmore, Jennifer M JM; Bernat, John A JA; Wheeler, Marsha M; Chong, Jessica X JX; Nickerson, Deborah D; Bamshad, Michael M; Hefner, Margaret A MA; Martin, Donna M DM; Bielas, Stephanie L SL
Publication Date: 2018-09

Variant appearance in text: KMT2D: 9602dupT; Ser3202Glufs*13
PubMed Link: 29300383
Variant Present in the following documents:
  • Main text
  • nihms922117.pdf
View BVdb publication page