KMT2D c.2579del ;(p.L860Rfs*70)

Variant ID: 12-49444887-CA-C

NM_003482.3(KMT2D):c.2579del;(p.L860Rfs*70)

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: 2579del; Leu860fs
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



A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Journal Of Clinical Research In Pediatric Endocrinology
Mısırlıgil, Mina M; Yıldız, Yılmaz Y; Akın, Onur O; Odabaşı Güneş, Sevinç S; Arslan, Mutluay M; Ünay, Bülent B
Publication Date: 2021-11-25

Variant appearance in text: KMT2D: 2579del; Leu860Argfs*70
PubMed Link: 32830475
Variant Present in the following documents:
  • Main text
  • JCRPE-13-452.pdf
View BVdb publication page



A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Journal Of Clinical Research In Pediatric Endocrinology
Mısırlıgil, Mina M; Yıldız, Yılmaz Y; Akın, Onur O; Odabaşı Güneş, Sevinç S; Arslan, Mutluay M; Ünay, Bülent B
Publication Date: 2021-11-25

Variant appearance in text: KMT2D: 2579del; Leu860Argfs*70
PubMed Link: 32830475
Variant Present in the following documents:
  • Main text
  • JCRPE-13-452.pdf
View BVdb publication page