NM_007078.3(LDB3):c.497C>A (p.Ala166Asp) AND Myofibrillar myopathy 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003090623.2
Allele description [Variation Report for NM_007078.3(LDB3):c.497C>A (p.Ala166Asp)]
NM_007078.3(LDB3):c.497C>A (p.Ala166Asp)
Condition(s)
-
polyglutamine-binding protein 1 isoform X2 [Homo sapiens]
polyglutamine-binding protein 1 isoform X2 [Homo sapiens]gi|2462499745|ref|XP_054189369.1|Protein
-
Taxonomy Links for GEO DataSets (Select 5294) (1)
Taxonomy
-
txid677599[Organism:noexp] (3)
Identical Protein Groups
-
IARS1 isoleucyl-tRNA synthetase 1 [Homo sapiens]
IARS1 isoleucyl-tRNA synthetase 1 [Homo sapiens]Gene ID:3376Gene
-
Gene Links for GEO Profiles (Select 107392692) (1)
Gene
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Last Updated: Feb 20, 2024