NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp) AND Immunodeficiency 35
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000309308.5
Allele description [Variation Report for NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp)]
NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp)
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
-
Synthetic construct clone BS25918 PCNA-PA (PCNA) gene, complete cds
Synthetic construct clone BS25918 PCNA-PA (PCNA) gene, complete cdsgi|1067146171|gb|KX804950.1|Nucleotide
-
AGENCOURT_13888876 NIH_MGC_147 Homo sapiens cDNA clone IMAGE:30340497 5', mRNA s...
AGENCOURT_13888876 NIH_MGC_147 Homo sapiens cDNA clone IMAGE:30340497 5', mRNA sequencegi|30283025|gnl|dbEST|17772534|gb|C 05.1|Nucleotide
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Last Updated: Apr 9, 2023