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Article

Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.

The Journal of molecular diagnostics : JMD - 1 Dec 2022

Sallah Shalaw R, Sergouniotis Panagiotis I, Hardcastle Claire, Ramsden Simon, Lotery Andrew J, Lench Nick, Lovell Simon C, Black Graeme C M

Abstract excerpt

Small in-frame insertion-deletion (indel) variants are a common form of genomic variation whose impact on rare disease phenotypes has been understudied. The prediction of the pathogenicity of such variants remains challenging. X-linked incomplete congenital stationary night blindness type 2 (CSNB2) is a nonprogressive, inherited retinal disorder caused by variants in CACNA1F, encoding the Cav1.4α1 channel...

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Identifiers

PMID: 36191840
DOI: 10.1016/j.jmoldx.2022.09.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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