NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter) AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000499126.3
Allele description [Variation Report for NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter)]
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024