NM_006282.5(STK4):c.1387C>T (p.Arg463Trp) AND Combined immunodeficiency due to STK4 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003223532.2
Allele description [Variation Report for NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)]
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)
Condition(s)
-
Limited wrist extension
Limited wrist extensionMedGen
-
C1862481[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023