NM_003331.5(TYK2):c.284G>A (p.Arg95Lys) AND Immunodeficiency 35
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000812810.6
Allele description [Variation Report for NM_003331.5(TYK2):c.284G>A (p.Arg95Lys)]
NM_003331.5(TYK2):c.284G>A (p.Arg95Lys)
Condition(s)
- Name:
- Immunodeficiency 35 (IMD35)
- Synonyms:
- HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; TYK2 DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012682; MedGen: C1969086; OMIM: 611521
-
Taxonomy Links for Nucleotide (Select 1932142633) (1)
Taxonomy
-
MAG: Helicobacteraceae bacterium isolate S010_53, whole genome shotgun sequencin...
MAG: Helicobacteraceae bacterium isolate S010_53, whole genome shotgun sequencing projectgi|1932142633|gb|WFND00000000.1|WFN 0000Nucleotide
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Last Updated: Sep 29, 2024