NM_000821.7(GGCX):c.1140dup (p.His381fs) AND Vitamin K-dependent clotting factors, combined deficiency of, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779339.4
Allele description [Variation Report for NM_000821.7(GGCX):c.1140dup (p.His381fs)]
NM_000821.7(GGCX):c.1140dup (p.His381fs)
Condition(s)
- Name:
- Vitamin K-dependent clotting factors, combined deficiency of, type 1
- Synonyms:
- FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III; FMFD III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010187; MedGen: C1848534; Orphanet: 98434; OMIM: 277450
-
Homo sapiens 5'-nucleotidase, cytosolic IB, mRNA (cDNA clone MGC:198475 IMAGE:90...
Homo sapiens 5'-nucleotidase, cytosolic IB, mRNA (cDNA clone MGC:198475 IMAGE:9054414), complete cdsgi|219521675|gb|BC171761.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:8860307, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:8860307, containing frame-shift errorsgi|146424298|gb|BC141842.1|Nucleotide
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Last Updated: Apr 9, 2023