NM_000071.3(CBS):c.1272C>G (p.Thr424=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002372848.2
Allele description [Variation Report for NM_000071.3(CBS):c.1272C>G (p.Thr424=)]
NM_000071.3(CBS):c.1272C>G (p.Thr424=)
Condition(s)
-
Homo sapiens PAX3 and PAX7 binding protein 1 (PAXBP1), transcript variant 1, mRN...
Homo sapiens PAX3 and PAX7 binding protein 1 (PAXBP1), transcript variant 1, mRNAgi|1519311546|ref|NM_016631.4|Nucleotide
-
LOC107961238 [Gossypium hirsutum]
LOC107961238 [Gossypium hirsutum]Gene ID:107961238Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024