NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004024951.1
Allele description [Variation Report for NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)]
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)
Condition(s)
-
Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA
Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNAgi|699964213|ref|NM_001610.3|Nucleotide
-
glycosyltransferase family 4 protein [[Clostridium] innocuum]
glycosyltransferase family 4 protein [[Clostridium] innocuum]gi|1957968560|gnl|PRJNA680355|I5Q87 0|gb|QQR25823.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024