NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) AND Epidermolysis bullosa dystrophica
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 3, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001148930.4
Allele description [Variation Report for NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)]
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
Condition(s)
- Name:
- Epidermolysis bullosa dystrophica
- Synonyms:
- Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
- Identifiers:
- MONDO: MONDO:0006543; MedGen: C0079294
-
Rattus norvegicus receptor-associated protein of the synapse (Rapsn), mRNA
Rattus norvegicus receptor-associated protein of the synapse (Rapsn), mRNAgi|157819696|ref|NM_001108584.1|Nucleotide
-
SRX14010907 (1)
SRA
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024