NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) AND Ehlers-Danlos syndrome progeroid type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 19, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001335541.1
Allele description [Variation Report for NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp)]
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp)
Condition(s)
Assertion and evidence details
Last Updated: Dec 17, 2023