NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) AND Thrombophilia due to protein S deficiency, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000361545.5
Allele description [Variation Report for NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu)]
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu)
Condition(s)
-
Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-is...
Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNAgi|1519315884|ref|NM_000198.4|Nucleotide
-
sciellin isoform 2 [Homo sapiens]
sciellin isoform 2 [Homo sapiens]gi|238908497|ref|NP_003834.3|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 9, 2023