NM_004425.4(ECM1):c.507del (p.Arg171fs) AND Lipid proteinosis
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000208549.6
Allele description [Variation Report for NM_004425.4(ECM1):c.507del (p.Arg171fs)]
NM_004425.4(ECM1):c.507del (p.Arg171fs)
Condition(s)
- Name:
- Lipid proteinosis
- Synonyms:
- Lipoproteinosis; Hyalinosis cutis et mucosae; Lipoid Proteinosis of Urbach and Wiethe; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009530; MedGen: C0023795; Orphanet: 530; OMIM: 247100
Assertion and evidence details
Last Updated: Oct 8, 2024