F2 c.1219_1220del ;(p.C407Pfs*14)

Variant ID: 11-46749634-CTG-C

NM_000506.3(F2):c.1219_1220del;(p.C407Pfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Sodi, Andrea A; Signorini, Sabrina S; Di Iorio, Valentina V; Murro, Vittoria V; Brunetti-Pierri, Raffaella R; Valente, Enza Maria EM; Karali, Marianthi M; Melillo, Paolo P; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2021-07-01

Variant appearance in text: F2: 1219_1220del
PubMed Link: 34196655
Variant Present in the following documents:
  • Main text
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