NM_001848.3(COL6A1):c.228-18C>T AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002139443.5
Allele description [Variation Report for NM_001848.3(COL6A1):c.228-18C>T]
NM_001848.3(COL6A1):c.228-18C>T
Condition(s)
-
Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA
Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNAgi|39725701|ref|NM_144616.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 17, 2024