NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000499038.3
Allele description [Variation Report for NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)]
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024