NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) AND Junctional epidermolysis bullosa with pyloric atresia
- Germline classification:
- Uncertain significance (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:
- RCV000279250.5
Allele description [Variation Report for NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln)]
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln)
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
-
eggcsite.comFeI (0)
BioProject
-
Profile neighbors for GEO Profiles (Select 132551331) (200)
GEO Profiles
-
eggcsite.comxOt (0)
BioProject
-
general transcription factor 3C polypeptide 2 isoform b [Homo sapiens]
general transcription factor 3C polypeptide 2 isoform b [Homo sapiens]gi|78482617|ref|NP_001030598.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 5, 2023