NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) AND Combined immunodeficiency due to DOCK8 deficiency
- Germline classification:
- Likely benign (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:
- RCV001166957.12
Allele description [Variation Report for NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)]
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)
Condition(s)
- Name:
- Combined immunodeficiency due to DOCK8 deficiency (HIES2)
- Synonyms:
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; HIES autosomal recessive; Hyper-IgE recurrent infection syndrome, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009478; MedGen: C4722305; Orphanet: 217390; OMIM: 243700
-
SMC5-SMC6 complex localization factor protein 2 isoform X4 [Anolis carolinensis]
SMC5-SMC6 complex localization factor protein 2 isoform X4 [Anolis carolinensis]gi|2672816151|ref|XP_062832395.1|Protein
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Last Updated: May 12, 2024