NM_001848.3(COL6A1):c.*785C>T AND Collagen 6-related myopathy
- 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:
- RCV000357295.5
Allele description [Variation Report for NM_001848.3(COL6A1):c.*785C>T]
NM_001848.3(COL6A1):c.*785C>T
Condition(s)
- Name:
- Collagen 6-related myopathy
- Synonyms:
- Collagen VI-related myopathy
- Identifiers:
- MONDO: MONDO:0100225; MedGen: CN117976
-
tyrosine kinase, non-receptor, 2, isoform CRA_e, partial [Homo sapiens]
tyrosine kinase, non-receptor, 2, isoform CRA_e, partial [Homo sapiens]gi|119570722|gb|EAW50337.1||gnl|WGS |hCP1882943Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023