NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394989.17
Allele description
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
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
-
LOC107985710 [Homo sapiens]
LOC107985710 [Homo sapiens]Gene ID:107985710Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024