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MLH1 c.1226_1227del ;(p.Q409Rfs*7)
Variant ID: 3-37067315-CAG-C
NM_000249.3(
MLH1
):c.1226_1227del;(p.Q409Rfs*7)
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:
Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.
Bmc Nephrology
Tomonari, Masahiro M; Shimada, Mariko M; Nakada, Yasuyuki Y; Yamamoto, Izumi I; Itoh, Munenari M; Koike, Yusuke Y; Kobayashi, Akimitsu A; Miki, Jun J; Yamada, Hiroki H; Kimura, Takahiro T; Saito, Shinya S; Sugano, Kokichi K; Sekine, Shigeki S; Yamamoto, Hiroyasu H; Asahina, Akihiko A; Yokoo, Takashi T
Publication Date: 2019-10-29
Variant appearance in text: MLH1: 1226_1227delAG; Gln409ArgfsX7
PubMed Link:
31664942
Variant Present in the following documents:
Main text
12882_2019_Article_1592.pdf
View BVdb publication page