NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814533.7
Allele description [Variation Report for NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)]
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)
Condition(s)
-
hywnt9/10a [Hydra vulgaris]
hywnt9/10a [Hydra vulgaris]Gene ID:100215038Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024