CSMD1 c.1347C>T ;(p.V449=)

Variant ID: 8-3351246-G-A

NM_033225.5(CSMD1):c.1347C>T;(p.V449=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.

Bmc Medical Genetics
Carstens, Nadia N; Williams, Susan S; Goolam, Saadiah S; Carmichael, Trevor T; Cheung, Ming Sin MS; Büchmann-Møller, Stine S; Sultan, Marc M; Staedtler, Frank F; Zou, Chao C; Swart, Peter P; Rice, Dennis S DS; Lacoste, Arnaud A; Paes, Kim K; Ramsay, Michèle M
Publication Date: 2016-07-20

Variant appearance in text: rs368653091
PubMed Link: 27439461
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_308.pdf
View BVdb publication page