NM_001848.3(COL6A1):c.1056+4A>C AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001325977.7
Allele description [Variation Report for NM_001848.3(COL6A1):c.1056+4A>C]
NM_001848.3(COL6A1):c.1056+4A>C
Condition(s)
-
Homo sapiens keratocan (KERA), mRNA
Homo sapiens keratocan (KERA), mRNAgi|62865891|ref|NM_007035.3|Nucleotide
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Last Updated: Sep 29, 2024