MSH2 c.679_682delinsTTCCT ;(p.R227Ffs*5)

Variant ID: 2-47639586-AGAA-TTCCT

NM_000251.2(MSH2):c.679_682delinsTTCCT;(p.R227Ffs*5)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research
Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID
Publication Date: 2022-03

Variant appearance in text: MSH2: 679_687delinsTTCCTAAAAA; Arg227Phefs*5
PubMed Link: 34873870
Variant Present in the following documents:
  • Main text
  • CJP2-8-181-s002.xlsx, sheet 1
  • CJP2-8-181.pdf
View BVdb publication page


Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research
Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID
Publication Date: 2021-12-06

Variant appearance in text: MSH2: 679_687delinsTTCCTAAAAA; Arg227Phefs*5
PubMed Link: 34873870
Variant Present in the following documents:
  • Main text
  • CJP2-8-181-s002.xlsx, sheet 1
  • CJP2-8-181.pdf
View BVdb publication page