NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000528355.7
Allele description [Variation Report for NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)]
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)
Condition(s)
-
triletide [Supplementary Concept]
triletide [Supplementary Concept]thromboxane A2 antagonist<br/>Date introduced: February 8, 1984<br/>MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024