NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002350027.9
Allele description [Variation Report for NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)]
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
Condition(s)
-
Polygala lindheimeri voucher FLAS:Abbott 19556 18S ribosomal RNA gene, partial s...
Polygala lindheimeri voucher FLAS:Abbott 19556 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequencegi|268321528|gb|GQ888979.1|Nucleotide
-
Homo sapiens calmodulin regulated spectrin associated protein family member 2 (C...
Homo sapiens calmodulin regulated spectrin associated protein family member 2 (CAMSAP2), transcript variant 1, mRNAgi|1953526469|ref|NM_001297707.3|Nucleotide
-
Achromobacter denitrificans strain MT3 NODE_8_length_115111_cov_16.694, whole ge...
Achromobacter denitrificans strain MT3 NODE_8_length_115111_cov_16.694, whole genome shotgun sequencegi|1130684360|gb|MSTP01000008.1||gn :MSTP01|NODE_8_length_115111_cov_16.694Nucleotide
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Last Updated: Sep 16, 2024