COL4A5 c.368del ;(p.G123Dfs*32)

Variant ID: X-107812033-CG-C

NM_033380.2(COL4A5):c.368del;(p.G123Dfs*32)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 368del; Gly123fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Genes
Wu, Chen-Chi CC; Tsai, Cheng-Yu CY; Lin, Yi-Hsin YH; Chen, Pey-Yu PY; Lin, Pei-Hsuan PH; Cheng, Yen-Fu YF; Wu, Che-Ming CM; Lin, Yin-Hung YH; Lee, Chee-Yee CY; Erdenechuluun, Jargalkhuu J; Liu, Tien-Chen TC; Chen, Pei-Lung PL; Hsu, Chuan-Jen CJ
Publication Date: 2019-10-01

Variant appearance in text: COL4A5: 367delG; G123Dfs
PubMed Link: 31581539
Variant Present in the following documents:
  • Main text
  • genes-10-00772.pdf
View BVdb publication page