NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000559065.16
Allele description [Variation Report for NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)]
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
Condition(s)
-
SRX7258938 (1)
SRA
-
LOC114296109 [Camellia sinensis]
LOC114296109 [Camellia sinensis]Gene ID:114296109Gene
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Last Updated: Aug 25, 2024