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
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Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.6, whole geno...
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.6, whole genome shotgun sequencegi|537159283|gnl|WGS:AWAP01|acYxc-s ont1.6|gb|KE701398.1|Nucleotide
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Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.2, whole geno...
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.2, whole genome shotgun sequencegi|537159300|gnl|WGS:AWAP01|acYxc-s ont1.2|gb|KE701394.1|Nucleotide
-
interferon induced protein with tetratricopeptide repeats 1B like 2 [Mus musculu...
interferon induced protein with tetratricopeptide repeats 1B like 2 [Mus musculus]gi|1375023107|ref|NP_001349059.1|Protein
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Mus musculus PDZ and LIM domain 1 (elfin) (Pdlim1), mRNA
Mus musculus PDZ and LIM domain 1 (elfin) (Pdlim1), mRNAgi|158635991|ref|NM_016861.4|Nucleotide
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Last Updated: Apr 23, 2022