NM_000132.4(F8):c.5217C>T (p.Asn1739=) AND Hereditary factor IX deficiency disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852146.1
Allele description [Variation Report for NM_000132.4(F8):c.5217C>T (p.Asn1739=)]
NM_000132.4(F8):c.5217C>T (p.Asn1739=)
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
-
Mus musculus castaneus isolate H34 Pdlim1 gene, partial sequence
Mus musculus castaneus isolate H34 Pdlim1 gene, partial sequencegi|299736476|gb|HM571263.1|Nucleotide
-
Homo sapiens isolate UNG_P14 uracil-DNA glycosylase gene, complete cds, alternat...
Homo sapiens isolate UNG_P14 uracil-DNA glycosylase gene, complete cds, alternatively splicedgi|311349975|gb|HQ206252.1|Nucleotide
-
galactokinase [Saccharomyces cerevisiae S288C]
galactokinase [Saccharomyces cerevisiae S288C]gi|6319494|ref|NP_009576.1|Protein
-
SLC1A1 solute carrier family 1 member 1 [Homo sapiens]
SLC1A1 solute carrier family 1 member 1 [Homo sapiens]Gene ID:6505Gene
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Last Updated: Apr 23, 2022