NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) AND Combined PSAP deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000285800.13
Allele description [Variation Report for NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)]
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
Condition(s)
- Name:
- Combined PSAP deficiency (PSAPD)
- Synonyms:
- COMBINED SAP DEFICIENCY; PROSAPOSIN DEFICIENCY; Combined saposin deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012719; MedGen: C2673635; Orphanet: 139406; OMIM: 611721
Assertion and evidence details
Last Updated: Apr 20, 2024