NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) AND Junctional epidermolysis bullosa, non-Herlitz type
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001730602.2
Allele description [Variation Report for NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)]
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)
Condition(s)
- Name:
- Junctional epidermolysis bullosa, non-Herlitz type
- Synonyms:
- EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650
-
secreted frizzled-related protein 1 [Vicugna pacos]
secreted frizzled-related protein 1 [Vicugna pacos]gi|1777510264|ref|XP_031547291.1|Protein
-
LOC115889520 [Sitophilus oryzae]
LOC115889520 [Sitophilus oryzae]Gene ID:115889520Gene
-
HWC25_gp040 [Aeromonas phage 2L372D]
HWC25_gp040 [Aeromonas phage 2L372D]Gene ID:55616528Gene
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Last Updated: Sep 29, 2024