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