ABCA4 c.3999_4000insACCCCAGA ;(p.P1334Tfs*58)

ABCA4 c.3999_4000insACCCCAGA ;(p.P1334Tfs*58)

Variant ID: 1-94497462-G-GTCTGGGGT

NM_000350.2(ABCA4):c.3999_4000insACCCCAGA;(p.P1334Tfs*58)

This variant was identified in 1 publication

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 3999_4000insACCCCAGA

PubMed Link: 35260635

Variant Present in the following documents:

41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page