NM_003331.5(TYK2):c.2920_2941del (p.Leu974fs) AND Immunodeficiency 35
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003515798.2
Allele description [Variation Report for NM_003331.5(TYK2):c.2920_2941del (p.Leu974fs)]
NM_003331.5(TYK2):c.2920_2941del (p.Leu974fs)
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
-
Plant sample from Ozomelis stauropetala
Plant sample from Ozomelis stauropetalabiosample
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Eurotiales beta-tubulin gene, partial cds.
Eurotiales beta-tubulin gene, partial cds.PopSet: 1697170535PopSet
-
RNAseq_dysgenic_rep2
RNAseq_dysgenic_rep2GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024