NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337680.6
Allele description [Variation Report for NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)]
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 116870481) (20)
GEO Profiles
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Ppp1r14bl protein phosphatase 1, regulatory inhibitor subunit 14B like [Mus musc...
Ppp1r14bl protein phosphatase 1, regulatory inhibitor subunit 14B like [Mus musculus]Gene ID:66755Gene
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Gene Links for GEO Profiles (Select 115115395) (1)
Gene
-
OXR1 oxidation resistance 1 [Homo sapiens]
OXR1 oxidation resistance 1 [Homo sapiens]Gene ID:55074Gene
-
Gene Links for GEO Profiles (Select 112109859) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024