NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001865935.5
Allele description [Variation Report for NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)]
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, type 4
- Synonyms:
- Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050
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Gene neighbors for Gene (Select 122056798) (8)
Gene
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PubChem Compound Links for Gene (Select 2068) (49)
PubChem Compound
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Last Updated: Mar 5, 2024