NM_000132.4(F8):c.5855T>A (p.Val1952Glu) AND Hereditary factor VIII deficiency disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002272639.2
Allele description [Variation Report for NM_000132.4(F8):c.5855T>A (p.Val1952Glu)]
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)
Condition(s)
- Name:
- Hereditary factor VIII deficiency disease (HEMA)
- Synonyms:
- AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 134500; OMIM: 306700
-
uncharacterized protein C20orf96 homolog isoform X1 [Equus quagga]
uncharacterized protein C20orf96 homolog isoform X1 [Equus quagga]gi|2193307624|ref|XP_046533923.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024