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MSH6 c.2725_2729del ;(p.L909Pfs*7)
Variant ID: 2-48027843-AGAATT-A
NM_000179.2(
MSH6
):c.2725_2729del;(p.L909Pfs*7)
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:
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09
Variant appearance in text: MSH6: 2725_2729del
PubMed Link:
35595529
Variant Present in the following documents:
LSA-2021-01319_TableS5.xlsx, sheet 2
LSA-2021-01319_TableS1.xlsx, sheet 1
LSA-2021-01319_TableS3.xlsx, sheet 1
View BVdb publication page
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: 2725_2729delTTGAA; Leu909Profs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page