CPAMD8 c.260A>C ;(p.K87T)

Variant ID: 19-17131148-T-G

NM_015692.2(CPAMD8):c.260A>C;(p.K87T)

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:

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg
Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM
Publication Date: 2021-08

Variant appearance in text: CPAMD8: Lys134Thr
PubMed Link: 33776059
Variant Present in the following documents:
  • Main text
View BVdb publication page


Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg
Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM
Publication Date: 2021-08

Variant appearance in text: CPAMD8: Lys134Thr
PubMed Link: 33776059
Variant Present in the following documents:
  • Main text
View BVdb publication page