NM_005267.5(GJA8):c.64G>T (p.Gly22Cys) AND Cataract 1 multiple types
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621217.2
Allele description [Variation Report for NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)]
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)
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
-
SLC35G2 [Crocodylus porosus]
SLC35G2 [Crocodylus porosus]Gene ID:109315267Gene
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Last Updated: Sep 29, 2024