NM_000128.4(F11):c.486-2A>G AND Hereditary factor XI deficiency disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 24, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409802.2
Allele description [Variation Report for NM_000128.4(F11):c.486-2A>G]
NM_000128.4(F11):c.486-2A>G
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
Assertion and evidence details
Last Updated: Sep 29, 2024