NM_000095.3(COMP):c.1993C>A (p.Arg665=) AND Multiple epiphyseal dysplasia type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000278977.5
Allele description [Variation Report for NM_000095.3(COMP):c.1993C>A (p.Arg665=)]
NM_000095.3(COMP):c.1993C>A (p.Arg665=)
Condition(s)
-
COL1A2 collagen type I alpha 2 chain [Homo sapiens]
COL1A2 collagen type I alpha 2 chain [Homo sapiens]Gene ID:1278Gene
-
1278[uid] AND (alive[prop]) (1)
Gene
-
Books for PubChem Substance (Select 134972565) (4)
Books
-
"Recurrent cutaneous fungal infections"[Clinical Features] OR 868... (4)
"Recurrent cutaneous fungal infections"[Clinical Features] OR 868980[uid]SearchMedGen
-
endoglucanase [Bacillus subtilis]
endoglucanase [Bacillus subtilis]gi|303303516|gb|ADM12805.1|Protein
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Last Updated: Dec 2, 2023