NM_000128.4(F11):c.1200G>A (p.Pro400=) AND Hereditary factor XI deficiency disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000333094.5
Allele description [Variation Report for NM_000128.4(F11):c.1200G>A (p.Pro400=)]
NM_000128.4(F11):c.1200G>A (p.Pro400=)
Condition(s)
- Name:
- Hereditary factor XI deficiency disease
- Synonyms:
- Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012897; MeSH: D005173; MedGen: C0015523; Orphanet: 329; OMIM: 612416
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Rattus norvegicus syndapin IIbb mRNA, complete cds
Rattus norvegicus syndapin IIbb mRNA, complete cdsgi|6651168|gb|AF139495.1|Nucleotide
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Rattus norvegicus syndapin IIab mRNA, complete cds
Rattus norvegicus syndapin IIab mRNA, complete cdsgi|6651164|gb|AF139493.1|Nucleotide
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H2BW4P H2B.W histone 4, pseudogene [Homo sapiens]
H2BW4P H2B.W histone 4, pseudogene [Homo sapiens]Gene ID:767811Gene
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Gene Links for GEO Profiles (Select 39388997) (1)
Gene
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Taxonomy Links for BioSample (Select 38021345) (1)
Taxonomy
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Last Updated: Oct 13, 2024