NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083780.8
Allele description [Variation Report for NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)]
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
Condition(s)
-
5BP3 (1)
Structure
-
Arabidopsis thaliana cytochrome P450, family 71, subfamily B, polypeptide 30 pse...
Arabidopsis thaliana cytochrome P450, family 71, subfamily B, polypeptide 30 pseudogene (CYP71B30P), partial mRNAgi|18409808|ref|NM_115189.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024