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POLE c.3642C>G ;(p.D1214E)
Variant ID: 12-133226416-G-C
NM_006231.2(
POLE
):c.3642C>G;(p.D1214E)
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:
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.
International Journal Of Molecular Sciences
Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F
Publication Date: 2017-05-06
Variant appearance in text: POLE: Asp1214Glu
PubMed Link:
28481244
Variant Present in the following documents:
Main text
ijms-18-00999.pdf
View BVdb publication page