NM_203447.4(DOCK8):c.1373G>A (p.Gly458Glu) AND Combined immunodeficiency due to DOCK8 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822899.8
Allele description
NM_203447.4(DOCK8):c.1373G>A (p.Gly458Glu)
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
-
asparagine synthetase [Rattus norvegicus]
asparagine synthetase [Rattus norvegicus]gi|460631|gb|AAA77671.1|Protein
-
fd102C forkhead domain 102C [Drosophila melanogaster]
fd102C forkhead domain 102C [Drosophila melanogaster]Gene ID:43843Gene
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Last Updated: Oct 21, 2023