NM_001994.3(F13B):c.1060T>C (p.Tyr354His) AND Factor XIII, b subunit, deficiency of
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000293917.5
Allele description [Variation Report for NM_001994.3(F13B):c.1060T>C (p.Tyr354His)]
NM_001994.3(F13B):c.1060T>C (p.Tyr354His)
Condition(s)
- Name:
- Factor XIII, b subunit, deficiency of
- Synonyms:
- Factor XIII subunit B deficiency
- Identifiers:
- MONDO: MONDO:0013190; MedGen: C2750481; Orphanet: 331; OMIM: 613235; Human Phenotype Ontology: HP:0040234
-
Uncultured bacterium clone CB921H3 dinitrogenase reductase Fe protein (nifH) gen...
Uncultured bacterium clone CB921H3 dinitrogenase reductase Fe protein (nifH) gene, partial cdsgi|29293439|gb|AY224040.1|Nucleotide
-
tape measure [Pontimonas phage phiPsal1]
tape measure [Pontimonas phage phiPsal1]gi|1336447363|gb|AUV61427.1|Protein
-
complement component 1, q subcomponent, A chain, isoform CRA_a [Homo sapiens]
complement component 1, q subcomponent, A chain, isoform CRA_a [Homo sapiens]gi|119615420|gb|EAW95014.1||gnl|WGS |hCP1855214Protein
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Last Updated: Aug 25, 2024