NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) AND not provided
- Germline classification:
- Likely 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:
- RCV001447889.7
Allele description [Variation Report for NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=)]
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Chain A, Interferon-induced, double-stranded RNA-activated protein kinase
Chain A, Interferon-induced, double-stranded RNA-activated protein kinasegi|1704664437|pdb|6D3L|AProtein
-
MIMAT0016852 AND (alive[prop]) (0)
Gene
-
Homo sapiens glutamate ionotropic receptor AMPA type subunit 1 (GRIA1), transcri...
Homo sapiens glutamate ionotropic receptor AMPA type subunit 1 (GRIA1), transcript variant 4, mRNAgi|1890264593|ref|NM_001258020.2|Nucleotide
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Last Updated: Sep 29, 2024