NM_001848.3(COL6A1):c.1002+17A>T AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002154465.5
Allele description [Variation Report for NM_001848.3(COL6A1):c.1002+17A>T]
NM_001848.3(COL6A1):c.1002+17A>T
Condition(s)
-
Brochis splendens isolate MT96 NADH dehydrogenase subunit 4 (ND4) gene, partial ...
Brochis splendens isolate MT96 NADH dehydrogenase subunit 4 (ND4) gene, partial cds; tRNA-His gene, complete sequence; and tRNA-Ser gene, partial sequence; mitochondrialgi|312839595|gb|GU210122.1|Nucleotide
-
Brochis splendens isolate MT97 cytochrome b (cytb) gene, partial cds; mitochondr...
Brochis splendens isolate MT97 cytochrome b (cytb) gene, partial cds; mitochondrialgi|312986647|gb|GU209301.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024