NM_005267.5(GJA8):c.263C>A (p.Pro88Gln) AND Cataract 1 multiple types
- Germline classification:
- Likely pathogenic (2 submissions)
- 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:
- RCV002246207.2
Allele description [Variation Report for NM_005267.5(GJA8):c.263C>A (p.Pro88Gln)]
NM_005267.5(GJA8):c.263C>A (p.Pro88Gln)
Condition(s)
- Name:
- Cataract 1 multiple types
- Synonyms:
- CATARACT, DUFFY-LINKED; Cataract 1; CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007285; MedGen: C1861828; Orphanet: 1377; OMIM: 116200
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AL880017 XGC-egg Xenopus tropicalis cDNA clone TEgg009h03 3', mRNA sequence
AL880017 XGC-egg Xenopus tropicalis cDNA clone TEgg009h03 3', mRNA sequencegi|38672126|gnl|dbEST|20702353|emb| 017.2|Nucleotide
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PMC Links for Nucleotide (Select 506340) (3)
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Last Updated: Jul 23, 2024