NM_000130.5(F5):c.1033C>T (p.Arg345Trp) AND Thrombophilia due to activated protein C resistance
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001097724.4
Allele description [Variation Report for NM_000130.5(F5):c.1033C>T (p.Arg345Trp)]
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
Condition(s)
- Name:
- Thrombophilia due to activated protein C resistance (THPH2)
- Synonyms:
- PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008560; MedGen: C1861171; OMIM: 188055
-
succinyl-CoA ligase [ADP-forming] beta chain [Vibrio vulnificus MO6-24/O]
succinyl-CoA ligase [ADP-forming] beta chain [Vibrio vulnificus MO6-24/O]gi|319932351|gb|ADV87215.1||gnl|43| 3775Protein
-
Mus musculus cDNA clone IMAGE:6393750
Mus musculus cDNA clone IMAGE:6393750gi|31565299|gb|BC053505.1|Nucleotide
-
MME [Pan paniscus]
MME [Pan paniscus]Gene ID:100985469Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024