POLE c.3642C>A ;(p.D1214E)

Variant ID: 12-133226416-G-T

NM_006231.2(POLE):c.3642C>A;(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