NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile) AND Junctional epidermolysis bullosa with pyloric atresia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001134214.5
Allele description [Variation Report for NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)]
NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)
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
-
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 4,...
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 4, mRNAgi|1160595669|ref|NM_001349477.1|Nucleotide
-
DC360356 IMR322 Homo sapiens cDNA clone IMR322004320 5', mRNA sequence
DC360356 IMR322 Homo sapiens cDNA clone IMR322004320 5', mRNA sequencegi|145999759|gnl|dbEST|46492892|dbj 0356.1|Nucleotide
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Last Updated: Aug 25, 2024