rs201397783

This variant is located in the CARD10 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Immunodeficiency 89 and autoimmunity; not specified

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Research that mentions this SNP (1)

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme
Case reportN=74Gabriela Chavarria-Soley et al.(2008)· Human Mutation

This NGS-based study analyzed 72 glaucoma-related genes in 61 patients with primary open-angle glaucoma (POAG) and found 9 rare variants in 16% of patients, including variants in CYP1B1 (p.Y81N, p.S28W), SIX6 (p.T212M), CARD10 (p.T436M, p.C984X), MFN1 (p.R534Q, p.E701X), OPTC (p.R298H), OPTN (p.Q518X), and WDR36 (p.E298N). Additionally, hypomorphic variants were identified in 8% of POAG patients, suggesting NGS is valuable for genetic assessment and early diagnosis.

Traits studied:Early-onset POAGLow-tension glaucomaPrimary open-angle glaucoma
PubMedDOIMetascience Observatory

About CARD10

The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]

View all CARD10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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