NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) AND Hereditary von Willebrand disease
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000778377.8
Allele description [Variation Report for NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)]
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)
Condition(s)
- Name:
- Hereditary von Willebrand disease
- Identifiers:
- MONDO: MONDO:0019565; MeSH: D014842; MedGen: C5703318
-
transcription factor HIVEP2 [Mus musculus]
transcription factor HIVEP2 [Mus musculus]gi|85861241|ref|NP_034567.2|Protein
-
607047 (1)
OMIM
-
2-aminomuconate deaminase [Bacteroidetes bacterium UKL13-3]
2-aminomuconate deaminase [Bacteroidetes bacterium UKL13-3]gi|1012308725|gnl|PRJNA290651|AEM51 0|gb|AMS27144.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024