CLP1 c.650T>C ;(p.V217A)

Variant ID: 11-57428280-T-C

NM_006831.2(CLP1):c.650T>C;(p.V217A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: CLP1: V217A
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 14
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs147951568
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: CLP1: V217A; rs147951568
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 8
View BVdb publication page