ABCA4 c.6221dup ;(p.N2075Qfs*22)

Variant ID: 1-94467474-G-GC

NM_000350.2(ABCA4):c.6221dup;(p.N2075Qfs*22)

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:

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Jci Insight
Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 6221dupG; Asn2075Glnfs*22
PubMed Link: 35076026
Variant Present in the following documents:
  • jciinsight-7-155373-s142.pdf
View BVdb publication page