NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486469.1
Allele description [Variation Report for NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)]
NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)
Condition(s)
-
Rattus norvegicus serine peptidase inhibitor, Kunitz type, 2 (Spint2), transcrip...
Rattus norvegicus serine peptidase inhibitor, Kunitz type, 2 (Spint2), transcript variant 2, mRNAgi|40018549|ref|NM_199087.1|Nucleotide
-
Homo sapiens metal response element binding transcription factor 2 (MTF2), trans...
Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNAgi|1519246328|ref|NM_007358.4|Nucleotide
-
F-box protein 8, isoform CRA_a [Homo sapiens]
F-box protein 8, isoform CRA_a [Homo sapiens]gi|119625147|gb|EAX04742.1||gnl|WGS |hCP49788Protein
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024