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