NM_003331.5(TYK2):c.2176-9C>T AND Immunodeficiency 35
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Oct 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001123534.2
Allele description
NM_003331.5(TYK2):c.2176-9C>T
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: Nov 29, 2021