NM_001849.4(COL6A2):c.2037A>G (p.Glu679=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003517284.2
Allele description [Variation Report for NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)]
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)
Condition(s)
-
Mus musculus voltage-dependent potassium channel Kv1.7 mRNA, complete cds
Mus musculus voltage-dependent potassium channel Kv1.7 mRNA, complete cdsgi|59894735|gb|AY779767.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024