NM_003331.5(TYK2):c.1904dup (p.Glu636fs) AND Immunodeficiency 35
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516472.2
Allele description [Variation Report for NM_003331.5(TYK2):c.1904dup (p.Glu636fs)]
NM_003331.5(TYK2):c.1904dup (p.Glu636fs)
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
-
Schizosaccharomyces pombe glutathione reductase Pgr1 (pgr1), mRNA
Schizosaccharomyces pombe glutathione reductase Pgr1 (pgr1), mRNAgi|429240041|ref|NM_001021485.2|Nucleotide
-
Bud9p [Saccharomyces cerevisiae S288C]
Bud9p [Saccharomyces cerevisiae S288C]gi|398365315|ref|NP_011555.3|Protein
-
Eurotiales beta-tubulin (tub2) gene, partial cds.
Eurotiales beta-tubulin (tub2) gene, partial cds.PopSet: 2573875787PopSet
-
Aspergillaceae beta-tubulin-like (tub2) gene, partial sequence.
Aspergillaceae beta-tubulin-like (tub2) gene, partial sequence.PopSet: 2634358300PopSet
-
leotiomyceta RNA polymerase II second largest subunit gene, partial cds.
leotiomyceta RNA polymerase II second largest subunit gene, partial cds.PopSet: 2595966267PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024