SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Gene profile

COL9A1

HGNC:2217 · SaudiVarKB evidence summary derived from retained literature mentions.

3Gene mentions
3Publications
2Linked variants
1Associated phenotypes

Associated phenotypes

Co-mentioned in COL9A1 publications
PhenotypeIdentifierArticlesMentions
hearing lossHP:000036522

Linked variants

Variants normalized to COL9A1
VariantHGVS / rsIDArticlesMentions
c.1052C>Ac.1052C>A11
c.1349A>Gc.1349A>G11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia——1
Not specified—121

Supporting publications

3 records
  1. 2026Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.The American journal of case reportsPubMed ↗
  2. 2023FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.Retinal cases & brief reportsPubMed ↗
  3. 2021Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.Molecular genetics & genomic medicinePubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.