NM_000133.4(F9):c.1029C>T (p.Asn343=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000868064.8
Allele description
NM_000133.4(F9):c.1029C>T (p.Asn343=)
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
-
Taxonomy Links for Protein (Select 1376334399) (1)
Taxonomy
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Lychnorhiza sp. 1 LGD-2...
cytochrome c oxidase subunit I, partial (mitochondrion) [Lychnorhiza sp. 1 LGD-2017]gi|1276726339|gb|ATV80952.1|Protein
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See more...Assertion and evidence details
Last Updated: May 26, 2024