NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) AND Thrombophilia due to protein S deficiency, autosomal dominant
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Nov 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000755688.11
Allele description [Variation Report for NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)]
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
Condition(s)
-
F-box only protein 5 isoform X2 [Oxyura jamaicensis]
F-box only protein 5 isoform X2 [Oxyura jamaicensis]gi|1865231166|ref|XP_035176321.1|Protein
-
F-box only protein 5 isoform X3 [Cygnus atratus]
F-box only protein 5 isoform X3 [Cygnus atratus]gi|1876003041|ref|XP_035394744.1|Protein
-
F-box only protein 5 isoform X2 [Aythya fuligula]
F-box only protein 5 isoform X2 [Aythya fuligula]gi|1802856572|ref|XP_032040714.1|Protein
-
F-box only protein 43 [Cervus canadensis]
F-box only protein 43 [Cervus canadensis]gi|2090127781|ref|XP_043339260.1|Protein
-
F-box only protein 5 [Corvus cornix cornix]
F-box only protein 5 [Corvus cornix cornix]gi|1987690944|ref|XP_010398895.3|Protein
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Last Updated: Oct 13, 2024