NM_021954.4(GJA3):c.596A>C (p.Glu199Ala) AND Cataract 14 multiple types
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004593622.1
Allele description [Variation Report for NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)]
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
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
-
Drosophila melanogaster Dicer-2 (Dcr-2), transcript variant B, mRNA
Drosophila melanogaster Dicer-2 (Dcr-2), transcript variant B, mRNAgi|665401662|ref|NM_001299611.1|Nucleotide
-
zinc finger protein 808 isoform 1 [Homo sapiens]
zinc finger protein 808 isoform 1 [Homo sapiens]gi|157167158|ref|NP_001034975.2|Protein
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Homo sapiens IPW mRNA sequence
Homo sapiens IPW mRNA sequencegi|562075|gb|U12897.1|HSU12897Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024