SLC24A3 c.89T>C ;(p.L30P)

Variant ID: 20-19193575-T-C

NM_020689.3(SLC24A3):c.89T>C;(p.L30P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.

Molecular Vision
Lai, Isabella N IN; Yellore, Vivek S VS; Rayner, Sylvia A SA; D'Silva, Nerissa C NC; Nguyen, Catherine K CK; Aldave, Anthony J AJ
Publication Date: 2010-12-18

Variant appearance in text: SLC24A3: 89T>C; Leu30Pro
PubMed Link: 21203404
Variant Present in the following documents:
  • mv-v16-2829.pdf
View BVdb publication page



Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Cornea
Aldave, Anthony J AJ; Yellore, Vivek S VS; Vo, Rosalind C RC; Kamal, Khairidzan M KM; Rayner, Sylvia A SA; Plaisier, Christopher L CL; Chen, Michael C MC; Damani, Mausam R MR; Pham, Michele N MN; Gorin, Michael B MB; Sobel, Eric E; Papp, Jeanette J
Publication Date: 2009-08

Variant appearance in text: SLC24A3: 89T>C; Leu30Pro
PubMed Link: 19574904
Variant Present in the following documents:
  • Main text
View BVdb publication page