MLH1 c.513dup ;(p.E172Rfs*20)

Variant ID: 3-37050362-G-GA

NM_000249.3(MLH1):c.513dup;(p.E172Rfs*20)

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: MLH1: 512_513insA
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.

Molecular Genetics & Genomic Medicine
Li, Yirong Y; Salo-Mullen, Erin E; Varghese, Anna A; Trottier, Magan M; Stadler, Zsofia K ZK; Zhang, Liying L
Publication Date: 2020-12

Variant appearance in text: MLH1: 512_513insA
PubMed Link: 33058565
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1523.pdf
View BVdb publication page