NM_003331.5(TYK2):c.2646G>A (p.Pro882=) AND Immunodeficiency 35
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516428.2
Allele description [Variation Report for NM_003331.5(TYK2):c.2646G>A (p.Pro882=)]
NM_003331.5(TYK2):c.2646G>A (p.Pro882=)
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
-
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Baculovirus infection: The cell cycle and apoptosis - Baculovirus Molecular Biology
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Introduction to the baculoviruses, their taxonomy, and evolution - Baculovirus M...
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DNA replication and genome processing - Baculovirus Molecular Biology
DNA replication and genome processing - Baculovirus Molecular Biology
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RecName: Full=Piwi-like protein 4; Short=mAgo5
RecName: Full=Piwi-like protein 4; Short=mAgo5gi|226701333|sp|Q8CGT6.3|PIWL4_MOUSProtein
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AV253931 RIKEN full-length enriched, adult male testis (DH10B) Mus musculus cDNA...
AV253931 RIKEN full-length enriched, adult male testis (DH10B) Mus musculus cDNA clone 4921506H11 3', mRNA sequencegi|16387973|gnl|dbEST|9988853|dbj|A 31.2|Nucleotide
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Last Updated: Sep 29, 2024