NM_021954.4(GJA3):c.136G>T (p.Gly46Cys) AND Cataract 14 multiple types
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002305352.4
Allele description [Variation Report for NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)]
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
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
-
transmembrane protein 180 isoform X1 [Homo sapiens]
transmembrane protein 180 isoform X1 [Homo sapiens]gi|2462520995|ref|XP_054222716.1|Protein
-
ATP synthase CF1 alpha subunit (chloroplast) [Tinomiscium petiolare]
ATP synthase CF1 alpha subunit (chloroplast) [Tinomiscium petiolare]gi|1027589319|gb|AND95381.1|Protein
-
ATP synthase CF1 alpha subunit (chloroplast) [Thalictrum javanicum]
ATP synthase CF1 alpha subunit (chloroplast) [Thalictrum javanicum]gi|1027589315|gb|AND95379.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024