NM_000312.4(PROC):c.30C>T (p.Phe10=) AND Thrombophilia due to protein C deficiency, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003451175.1
Allele description [Variation Report for NM_000312.4(PROC):c.30C>T (p.Phe10=)]
NM_000312.4(PROC):c.30C>T (p.Phe10=)
Condition(s)
- Name:
- Thrombophilia due to protein C deficiency, autosomal recessive
- Synonyms:
- PROC DEFICIENCY, AUTOSOMAL RECESSIVE; PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
- Identifiers:
- MONDO: MONDO:0012860; MedGen: C2676759; Orphanet: 745; OMIM: 612304
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Mastrus ridens voucher AR-10-ORI cytochrome oxidase subunit 1 (COI) gene, partia...
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Last Updated: Oct 13, 2024