HP c.591G>A ;(p.L197=)

Variant ID: 16-72094159-G-A

NM_005143.3(HP):c.591G>A;(p.L197=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: HP: L197=
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 16
View BVdb publication page



A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget
Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K
Publication Date: 2017-10-13

Variant appearance in text: HP: 591G>A
PubMed Link: 29137425
Variant Present in the following documents:
  • Main text
  • oncotarget-08-84309.pdf
View BVdb publication page