NM_021954.4(GJA3):c.655A>G (p.Met219Val) AND Cataract 14 multiple types
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001925926.6
Allele description [Variation Report for NM_021954.4(GJA3):c.655A>G (p.Met219Val)]
NM_021954.4(GJA3):c.655A>G (p.Met219Val)
Condition(s)
- Name:
- Cataract 14 multiple types
- Synonyms:
- Zonular pulverulent cataract 3; CATARACT 14, ZONULAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011162; MedGen: C1866078; Orphanet: 91492; OMIM: 601885
-
protein kinase RIO1 [Saccharomyces cerevisiae S288C]
protein kinase RIO1 [Saccharomyces cerevisiae S288C]gi|398365221|ref|NP_014762.3|Protein
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Last Updated: Sep 29, 2024