NM_001374675.1(HSF4):c.195T>A (p.His65Gln) AND Cataract 5 multiple types
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002250973.1
Allele description [Variation Report for NM_001374675.1(HSF4):c.195T>A (p.His65Gln)]
NM_001374675.1(HSF4):c.195T>A (p.His65Gln)
Condition(s)
- Name:
- Cataract 5 multiple types (CTRCT5)
- Synonyms:
- Perinuclear cataract; CATARACT, MARNER TYPE; CATARACT 5, LAMELLAR; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007290; MedGen: C0266537; Orphanet: 91492; OMIM: 116800; Human Phenotype Ontology: HP:0007971
-
Homo sapiens carbonic anhydrase 8 (CA8), transcript variant 7, mRNA
Homo sapiens carbonic anhydrase 8 (CA8), transcript variant 7, mRNAgi|2449300377|ref|NM_001416962.1|Nucleotide
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Last Updated: Dec 24, 2023