NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003793247.1
Allele description [Variation Report for NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp)]
NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp)
Condition(s)
- Name:
- Epidermolysis bullosa simplex 5B, with muscular dystrophy (EBS5B)
- Synonyms:
- EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex with muscular dystrophy
- Identifiers:
- MONDO: MONDO:0009181; MedGen: C2931072; Orphanet: 257; OMIM: 226670
- Name:
- Epidermolysis bullosa simplex, Ogna type (EBS5A)
- Synonyms:
- EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; Pidermolysis bullosa simplex 5A, Ogna type
- Identifiers:
- MONDO: MONDO:0007555; MedGen: C0432317; Orphanet: 79401; OMIM: 131950
- Name:
- Epidermolysis bullosa simplex 5C, with pyloric atresia (EBS5C)
- Synonyms:
- Epidermolysis bullosa simplex with pyloric atresia; PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia
- Identifiers:
- MONDO: MONDO:0012807; MedGen: C2677349; Orphanet: 158684; OMIM: 612138
Assertion and evidence details
Last Updated: Mar 5, 2024