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MSH2 c.595_596inv ;(p.C199H)
Variant ID: 2-47637461-TG-CA
NM_000251.2(
MSH2
):c.595_596inv;(p.C199H)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: MSH2: C199H
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.
Free Radical Biology & Medicine
Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS
Publication Date: 2017-06
Variant appearance in text: MSH2: C199H
PubMed Link:
28087410
Variant Present in the following documents:
Main text
View BVdb publication page