HMCN1 c.7677G>C ;(p.K2559N)

Variant ID: 1-186034533-G-C

NM_031935.2(HMCN1):c.7677G>C;(p.K2559N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.

Plos One
Duvvari, Maheswara R MR; van de Ven, Johannes P H JP; Geerlings, Maartje J MJ; Saksens, Nicole T M NT; Bakker, Bjorn B; Henkes, Arjen A; Neveling, Kornelia K; del Rosario, Marisol M; Westra, Dineke D; van den Heuvel, Lambertus P W J LP; Schick, Tina T; Fauser, Sascha S; Boon, Camiel J F CJ; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2016

Variant appearance in text: HMCN1: 7677G>C; rs139899015
PubMed Link: 27007659
Variant Present in the following documents:
  • Main text
  • pone.0152047.pdf
View BVdb publication page