NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) AND Thrombophilia due to protein C deficiency, autosomal dominant
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000366599.11
Allele description [Variation Report for NM_000312.4(PROC):c.1318C>T (p.Arg440Cys)]
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys)
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
-
Larimus fasciatus voucher USNM:FISH:423797 small subunit ribosomal RNA gene, par...
Larimus fasciatus voucher USNM:FISH:423797 small subunit ribosomal RNA gene, partial sequence; mitochondrialgi|2557039864|gb|OR379911.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024