NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000525877.12
Allele description [Variation Report for NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)]
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
Condition(s)
-
thiol peroxidase (atypical 2-Cys peroxiredoxin) [Ruegeria sp. TM1040]
thiol peroxidase (atypical 2-Cys peroxiredoxin) [Ruegeria sp. TM1040]gi|99038592|gnl|jgi|TM1040_2472|gb| 204.1|Protein
-
LOC107664435 [Sinocyclocheilus anshuiensis]
LOC107664435 [Sinocyclocheilus anshuiensis]Gene ID:107664435Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024