ABCA4 c.3416A>G ;(p.Y1139C)

Variant ID: 1-94506871-T-C

NM_000350.2(ABCA4):c.3416A>G;(p.Y1139C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Human Mutation
Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2014-10

Variant appearance in text: ABCA4: Y1139C
PubMed Link: 25066811
Variant Present in the following documents:
  • Main text
  • humu0035-1187.pdf
View BVdb publication page