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MLH1 c.1226A>C ;(p.Q409P)
Variant ID: 3-37067315-A-C
NM_000249.3(
MLH1
):c.1226A>C;(p.Q409P)
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:
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18
Variant appearance in text: MLH1: Q409P; rs104895000
PubMed Link:
20805886
Variant Present in the following documents:
Main text
pone.0012260.s004.pdf
pone.0012260.pdf
pone.0012260.s005.pdf
View BVdb publication page