SI c.281G>A ;(p.C94Y)

Variant ID: 3-164786958-C-T

NM_001041.3(SI):c.281G>A;(p.C94Y)

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: SI: C94Y; rs768559234
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



An experimental pig model with outer retinal degeneration induced by temporary intravitreal loading of N-methyl-N-nitrosourea during vitrectomy.

Scientific Reports
Choi, Kwang-Eon KE; Anh, Vu Thi Que VTQ; Kim, Jee Taek JT; Yun, Cheolmin C; Cha, Seongkwang S; Ahn, Jungryul J; Goo, Yong Sook YS; Kim, Seong-Woo SW
Publication Date: 2021-01-08

Variant appearance in text: SI: C94Y
PubMed Link: 33420119
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_79437.pdf
View BVdb publication page



Permanent neonatal diabetes in INS(C94Y) transgenic pigs.

Diabetes
Renner, Simone S; Braun-Reichhart, Christina C; Blutke, Andreas A; Herbach, Nadja N; Emrich, Daniela D; Streckel, Elisabeth E; Wünsch, Annegret A; Kessler, Barbara B; Kurome, Mayuko M; Bähr, Andrea A; Klymiuk, Nikolai N; Krebs, Stefan S; Puk, Oliver O; Nagashima, Hiroshi H; Graw, Jochen J; Blum, Helmut H; Wanke, Ruediger R; Wolf, Eckhard E
Publication Date: 2013-05

Variant appearance in text: SI: C94Y
PubMed Link: 23274907
Variant Present in the following documents:
  • 1505.pdf
View BVdb publication page