NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448478.1
Allele description [Variation Report for NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)]
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
Condition(s)
- Name:
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Synonyms:
- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- Identifiers:
- MONDO: MONDO:0012726; MedGen: C2673195; Orphanet: 73229; OMIM: 611773
- Name:
- Brain small vessel disease 1 with or without ocular anomalies (BSVD1)
- Synonyms:
- Brain small vessel disease with hemorrhage
- Identifiers:
- MONDO: MONDO:0008289; MedGen: C4551998; Orphanet: 2940; Orphanet: 99810; OMIM: 175780
- Name:
- Retinal arterial tortuosity
- Synonyms:
- RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY; Retinal arteries, tortuosity of
- Identifiers:
- MONDO: MONDO:0008373; MedGen: C0423401; Orphanet: 75326; OMIM: 180000; Human Phenotype Ontology: HP:0000631
-
nuclear autoantigen Sp-100 isoform X14 [Rattus norvegicus]
nuclear autoantigen Sp-100 isoform X14 [Rattus norvegicus]gi|1958803217|ref|XP_038939838.1|Protein
-
nuclear autoantigen Sp-100 isoform X13 [Rattus norvegicus]
nuclear autoantigen Sp-100 isoform X13 [Rattus norvegicus]gi|2678971667|ref|XP_063123496.1|Protein
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Last Updated: Oct 20, 2024