ABCA4 c.1027_1028del ;(p.N343*)

Variant ID: 1-94546105-ATT-A

NM_000350.2(ABCA4):c.1027_1028del;(p.N343*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics
Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 1027_1028del
PubMed Link: 28446513
Variant Present in the following documents:
  • Main text
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