NM_000130.5(F5):c.1545C>T (p.Ile515=) AND Thrombophilia due to thrombin defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000273007.5
Allele description [Variation Report for NM_000130.5(F5):c.1545C>T (p.Ile515=)]
NM_000130.5(F5):c.1545C>T (p.Ile515=)
Condition(s)
-
Woloszynskia leopoliensis small subunit ribosomal RNA gene, partial sequence
Woloszynskia leopoliensis small subunit ribosomal RNA gene, partial sequencegi|43348831|gb|AY443025.1|Nucleotide
-
Anti-centromere antibody positivity
Anti-centromere antibody positivityMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024