NM_000312.4(PROC):c.889G>C (p.Asp297His) AND Thrombophilia due to protein C deficiency, autosomal dominant
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821496.7
Allele description [Variation Report for NM_000312.4(PROC):c.889G>C (p.Asp297His)]
NM_000312.4(PROC):c.889G>C (p.Asp297His)
Condition(s)
- Name:
- Thrombophilia due to protein C deficiency, autosomal dominant
- Synonyms:
- PROC DEFICIENCY, AUTOSOMAL DOMINANT; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
- Identifiers:
- MONDO: MONDO:0008316; MedGen: C2674321; Orphanet: 745; OMIM: 176860
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Homo sapiens DAB adaptor protein 1 (DAB1), transcript variant 9, mRNA
Homo sapiens DAB adaptor protein 1 (DAB1), transcript variant 9, mRNAgi|1828054909|ref|NM_001365795.2|Nucleotide
-
6-phospho-beta-glucosidase [Atopobiaceae bacterium P1]
6-phospho-beta-glucosidase [Atopobiaceae bacterium P1]gi|2033773343|dbj|BCV18986.1|Protein
-
poly-beta-1,6-N-acetyl-D-glucosamine N-deacetylase PgaB [Acinetobacter sp. Ac-14...
poly-beta-1,6-N-acetyl-D-glucosamine N-deacetylase PgaB [Acinetobacter sp. Ac-14]gi|1928147826|gnl|PRJNA671750|IOD65 5|gb|QOX00498.1|Protein
-
xl11047G01F_1377260 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11047G01F_1377260 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11047G01 5', mRNA sequencegi|798021796|gnl|dbEST|79648728|gb| 026.1|Nucleotide
-
Mus musculus peptidylprolyl isomerase C, mRNA (cDNA clone MGC:31015 IMAGE:502667...
Mus musculus peptidylprolyl isomerase C, mRNA (cDNA clone MGC:31015 IMAGE:5026674), complete cdsgi|19483858|gb|BC025861.1|Nucleotide
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Last Updated: Sep 29, 2024