NM_000128.4(F11):c.1613C>T (p.Pro538Leu) AND Hereditary factor XI deficiency disease
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000169580.4
Allele description [Variation Report for NM_000128.4(F11):c.1613C>T (p.Pro538Leu)]
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
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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Last Updated: Mar 30, 2024