MLH1 c.1322C>T ;(p.A441V)

Variant ID: 3-37067411-C-T

NM_000249.3(MLH1):c.1322C>T;(p.A441V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: MLH1: 1322C>T
PubMed Link: 34104084
Variant Present in the following documents:
  • Main text
  • ijmsv18p2532.pdf
  • ijmsv18p2532s2.xlsx, sheet 3
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: MLH1: 1322C>T
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page