SI c.1667A>G ;(p.Y556C)

Variant ID: 3-164766963-T-C

NM_001041.3(SI):c.1667A>G;(p.Y556C)

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: SI: Y556C; rs1368010717
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Fluconazole-Resistant Candida glabrata Bloodstream Isolates, South Korea, 2008-2018.

Emerging Infectious Diseases
Won, Eun Jeong EJ; Choi, Min Ji MJ; Kim, Mi-Na MN; Yong, Dongeun D; Lee, Wee Gyo WG; Uh, Young Y; Kim, Taek Soo TS; Byeon, Seung Ah SA; Lee, Seung Yeob SY; Kim, Soo Hyun SH; Shin, Jong Hee JH
Publication Date: 2021-03

Variant appearance in text: SI: Y556C
PubMed Link: 33624581
Variant Present in the following documents:
  • 20-3482.pdf
View BVdb publication page