NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004525889.2
Allele description [Variation Report for NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)]
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Chain D, Gamma-aminobutyric acid receptor subunit alpha-1,Gamma-aminobutyric aci...
Chain D, Gamma-aminobutyric acid receptor subunit alpha-1,Gamma-aminobutyric acid receptor subunit alpha-1gi|1547030449|pdb|6HUJ|DProtein
-
Homo sapiens distal membrane arm assembly component 1 (DMAC1), transcript varian...
Homo sapiens distal membrane arm assembly component 1 (DMAC1), transcript variant 2, mRNAgi|1519246182|ref|NM_033428.3|Nucleotide
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Last Updated: Oct 26, 2024