NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002315113.9
Allele description [Variation Report for NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)]
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)
Condition(s)
-
LOC727775 (0)
Conserved Domains
-
Homo sapiens neuropilin 2 (NRP2), transcript variant 5, mRNA
Homo sapiens neuropilin 2 (NRP2), transcript variant 5, mRNAgi|1677530423|ref|NM_201267.2|Nucleotide
-
Drosophila melanogaster GH11014 full insert cDNA
Drosophila melanogaster GH11014 full insert cDNAgi|116875695|gnl|berkeley|GH11014|g 29261.1|Nucleotide
-
Chain C, CBL-INTERACTING SERINE/THREONINE-PROTEIN KINASE 23
Chain C, CBL-INTERACTING SERINE/THREONINE-PROTEIN KINASE 23gi|697350755|pdb|4CZU|CProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024