NM_201384.3(PLEC):c.13232C>T (p.Ala4411Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003787267.1
Allele description
NM_201384.3(PLEC):c.13232C>T (p.Ala4411Val)
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
-
BioProject Links for Protein (Select 2660336245) (1)
BioProject
-
PMC Links for Taxonomy (Select 483913) (5)
PMC
-
alkaline phosphatase PhoA [Bacillus inaquosorum]
alkaline phosphatase PhoA [Bacillus inaquosorum]gi|2660336237|ref|WP_326980552.1|Protein
-
hypothetical protein [Bacillus inaquosorum]
hypothetical protein [Bacillus inaquosorum]gi|2660336243|ref|WP_326980558.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024