CFH c.801T>G ;(p.C267W)

Variant ID: 1-196654204-T-G

NM_000186.3(CFH):c.801T>G;(p.C267W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation genetic testing for retinitis pigmentosa.

Human Mutation
Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H
Publication Date: 2012-06

Variant appearance in text: CFH: C267W
PubMed Link: 22334370
Variant Present in the following documents:
  • humu0033-0963-sd1.pdf
View BVdb publication page