NM_000133.4(F9):c.1381A>C (p.Thr461Pro) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000525184.10
Allele description [Variation Report for NM_000133.4(F9):c.1381A>C (p.Thr461Pro)]
NM_000133.4(F9):c.1381A>C (p.Thr461Pro)
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
-
coiled-coil domain-containing protein 85C [Homo sapiens]
coiled-coil domain-containing protein 85C [Homo sapiens]gi|223671856|ref|NP_001138467.1|Protein
-
Phospholipase C, delta 4 [Mus musculus]
Phospholipase C, delta 4 [Mus musculus]gi|42490941|gb|AAH66156.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024