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MLH1 c.532delinsTTTT ;(p.E178delinsF*)
Variant ID: 3-37050383-G-TTTT
NM_000249.3(
MLH1
):c.532delinsTTTT;(p.E178delinsF*)
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: MLH1: Glu178delinsPhe*
PubMed Link:
34873870
Variant Present in the following documents:
Main text
CJP2-8-181.pdf
CJP2-8-181-s002.xlsx, sheet 1
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: MLH1: Glu178delinsPhe*
PubMed Link:
34873870
Variant Present in the following documents:
Main text
CJP2-8-181.pdf
CJP2-8-181-s002.xlsx, sheet 1
View BVdb publication page