NM_000089.4(COL1A2):c.246T>C (p.Asp82=) AND Ehlers-danlos syndrome, arthrochalasia type, 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000318261.5
Allele description [Variation Report for NM_000089.4(COL1A2):c.246T>C (p.Asp82=)]
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024