HPS4 c.704A>G ;(p.H235R)

Variant ID: 22-26862194-T-C

NM_022081.5(HPS4):c.704A>G;(p.H235R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: HPS4: 704A>G; H235R; rs150166679
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: HPS4: H235R
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page