NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) AND Cataract 14 multiple types
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002049782.4
Allele description [Variation Report for NM_021954.4(GJA3):c.178G>A (p.Gly60Ser)]
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser)
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
-
Microbe sample from Verticillium dahliae
Microbe sample from Verticillium dahliaebiosample
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Last Updated: Sep 29, 2024