TG c.4856C>T ;(p.S1619F)

Variant ID: 8-133945845-C-T

NM_003235.4(TG):c.4856C>T;(p.S1619F)

This variant was identified in 3 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: TG: S1619F; rs759423976
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Bmc Medical Genomics
Zlotina, Anna A; Melnik, Olesia O; Fomicheva, Yulia Y; Skitchenko, Rostislav R; Sergushichev, Alexey A; Shagimardanova, Elena E; Gusev, Oleg O; Gazizova, Guzel G; Loevets, Tatiana T; Vershinina, Tatiana T; Kozyrev, Ivan I; Gordeev, Mikhail M; Vasichkina, Elena E; Pervunina, Tatiana T; Kostareva, Anna A
Publication Date: 2020-11-20

Variant appearance in text: TG: S1619F; rs759423976
PubMed Link: 33218365
Variant Present in the following documents:
  • 12920_2020_821_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-SaccĂ , Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: TG: 4856C>T
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
View BVdb publication page