NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497533.1
Allele description [Variation Report for NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)]
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)
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
-
5-oxoprolinase subunit PxpB [Breoghania corrubedonensis]
5-oxoprolinase subunit PxpB [Breoghania corrubedonensis]gi|1382120518|ref|WP_107990495.1|Protein
-
eggc.vipDgY (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023