ABCA4 c.5141T>C ;(p.F1714S)

Variant ID: 1-94485193-A-G

NM_000350.2(ABCA4):c.5141T>C;(p.F1714S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight
Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Phe1714Ser
PubMed Link: 34874912
Variant Present in the following documents:
  • jciinsight-7-156154.pdf
  • jciinsight-7-156154-s174.xlsx, sheet 1
View BVdb publication page