NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) AND Junctional epidermolysis bullosa with pyloric atresia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000337992.5
Allele description [Variation Report for NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln)]
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln)
Condition(s)
- Name:
- Junctional epidermolysis bullosa with pyloric atresia
- Synonyms:
- EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Carmi syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009183; MedGen: C5676875; Orphanet: 79403; OMIM: 226730
-
hypothetical protein Phi3:1_gp23 [Cellulophaga phage phi3:1]
hypothetical protein Phi3:1_gp23 [Cellulophaga phage phi3:1]gi|514343105|gb|AGO49342.1|Protein
-
Kearns-Sayre Syndrome - StatPearls
Kearns-Sayre Syndrome - StatPearls
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024