NM_000094.4(COL7A1):c.5532+1G>A AND Recessive dystrophic epidermolysis bullosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626021.2
Allele description [Variation Report for NM_000094.4(COL7A1):c.5532+1G>A]
NM_000094.4(COL7A1):c.5532+1G>A
Condition(s)
- Name:
- Recessive dystrophic epidermolysis bullosa (RDEB)
- Synonyms:
- EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600
-
JGI_CAAN1697.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687219 5',...
JGI_CAAN1697.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687219 5', mRNA sequencegi|58648513|gnl|dbEST|27616088|gb|C 69.1|Nucleotide
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CR438818 XGC-tailbud Xenopus tropicalis cDNA clone TTbA051k02 5', mRNA sequence
CR438818 XGC-tailbud Xenopus tropicalis cDNA clone TTbA051k02 5', mRNA sequencegi|48964405|gnl|dbEST|23833033|emb| 818.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 29, 2024