MLH1 c.808_811del ;(p.T270Pfs*2)

Variant ID: 3-37059014-AACTT-A

NM_000249.3(MLH1):c.808_811del;(p.T270Pfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 808_811delACTT; Thr270Profs; rs267607801
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Pyloric gland adenoma in Lynch syndrome.

The American Journal Of Surgical Pathology
Lee, Seung Eun SE; Kang, So Young SY; Cho, Junhun J; Lee, Boram B; Chang, Dong Kyung DK; Woo, Hyein H; Kim, Jong Won JW; Park, Ha Young HY; Do, In Gu IG; Kim, Young Eun YE; Kushima, Ryoji R; Lauwers, Gregory Y GY; Park, Cheol Keun CK; Kim, Kyoung M KM
Publication Date: 2014-06

Variant appearance in text: MLH1: 808_811delACTT
PubMed Link: 24518125
Variant Present in the following documents:
  • Main text
  • pas-38-784.pdf
View BVdb publication page