TTN c.66187G>C ;(p.V22063L)

Variant ID: 2-179446909-C-G

NM_001267550.1(TTN):c.66187G>C;(p.V22063L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TTN: V22063L; rs768057735
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Eng, Charis C
Publication Date: 2017

Variant appearance in text: TTN: 66187G>C; V22063L
PubMed Link: 29263846
Variant Present in the following documents:
  • Main text
  • 41525_2017_39_MOESM1_ESM.pdf
  • 41525_2017_Article_39.pdf
View BVdb publication page