NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004019778.1
Allele description [Variation Report for NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)]
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
Condition(s)
-
Homo sapiens E74 like ETS transcription factor 2 (ELF2), transcript variant 5, m...
Homo sapiens E74 like ETS transcription factor 2 (ELF2), transcript variant 5, mRNAgi|1889641080|ref|NM_001276459.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024