MSH2 c.321del ;(p.G108Efs*66)

Variant ID: 2-47635649-CT-C

NM_000251.2(MSH2):c.321del;(p.G108Efs*66)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer
Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP
Publication Date: 2022-11-23

Variant appearance in text: MSH2: 321del; Gly108fs
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

Jama Dermatology
Everett, Jessica N JN; Raymond, Victoria M VM; Dandapani, Monica M; Marvin, Monica M; Kohlmann, Wendy W; Chittenden, Anu A; Koeppe, Erika E; Gustafson, Shanna L SL; Else, Tobias T; Fullen, Douglas R DR; Johnson, Timothy M TM; Syngal, Sapna S; Gruber, Stephen B SB; Stoffel, Elena M EM
Publication Date: 2014-12

Variant appearance in text: MSH2: 321delT; G108EfsX66
PubMed Link: 25006859
Variant Present in the following documents:
  • Main text
View BVdb publication page