OCA2 c.327G>A ;(p.G109=)

Variant ID: 15-28273205-C-T

NM_000275.2(OCA2):c.327G>A;(p.G109=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M
Publication Date: 2017-09

Variant appearance in text: OCA2: 327G>A
PubMed Link: 28252636
Variant Present in the following documents:
  • Main text
  • NIHMS853380-supplement-supp_table1.xlsx, sheet 1
View BVdb publication page