NM_000506.5(F2):c.1654+18G>A AND Congenital prothrombin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003626428.1
Allele description [Variation Report for NM_000506.5(F2):c.1654+18G>A]
NM_000506.5(F2):c.1654+18G>A
Condition(s)
- Name:
- Congenital prothrombin deficiency
- Synonyms:
- HYPOPROTHROMBINEMIA; Factor II deficiency; Hereditary factor II deficiency disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013361; MedGen: C0272317; Orphanet: 325; OMIM: 613679
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dnaJ homolog subfamily B member 6 isoform X1 [Homo sapiens]
dnaJ homolog subfamily B member 6 isoform X1 [Homo sapiens]gi|767946620|ref|XP_011514006.1|Protein
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RecName: Full=Transmembrane protein 250; AltName: Full=Herpes virus UL25-binding...
RecName: Full=Transmembrane protein 250; AltName: Full=Herpes virus UL25-binding proteingi|449061866|sp|H0YL14.2|TM250_HUMAProtein
-
Taxonomy Links for BioSample (Select 14670173) (1)
Taxonomy
-
Pacbio genomic reads
Pacbio genomic readsbiosample
-
G6PC2 glucose-6-phosphatase catalytic subunit 2 [Homo sapiens]
G6PC2 glucose-6-phosphatase catalytic subunit 2 [Homo sapiens]Gene ID:57818Gene
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Last Updated: Feb 28, 2024