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MSH6 c.3320del ;(p.D1107Vfs*8)
Variant ID: 2-48030706-GA-G
NM_000179.2(
MSH6
):c.3320del;(p.D1107Vfs*8)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 3320delA; Asp1107Valfs; rs63750377
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03
Variant appearance in text: MSH6: 3320del; Asp1107Valfs; rs63750377
PubMed Link:
33630411
Variant Present in the following documents:
CAC2-41-218-s001.xlsx, sheet 1
CAC2-41-218-s001.xlsx, sheet 3
View BVdb publication page