NM_003331.5(TYK2):c.970A>G (p.Ile324Val) AND Immunodeficiency 35
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001234192.5
Allele description [Variation Report for NM_003331.5(TYK2):c.970A>G (p.Ile324Val)]
NM_003331.5(TYK2):c.970A>G (p.Ile324Val)
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
Assertion and evidence details
Last Updated: Feb 20, 2024