NM_000133.4(F9):c.676C>T (p.Arg226Trp) AND Hereditary factor IX deficiency disease
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000011336.18
Allele description [Variation Report for NM_000133.4(F9):c.676C>T (p.Arg226Trp)]
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
Condition(s)
- Name:
- Hereditary factor IX deficiency disease (HEMB)
- Synonyms:
- F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900
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Homo sapiens tetraspanin 3, mRNA (cDNA clone MGC:4073 IMAGE:2964568), complete c...
Homo sapiens tetraspanin 3, mRNA (cDNA clone MGC:4073 IMAGE:2964568), complete cdsgi|33870147|gb|BC009248.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024