NM_003331.5(TYK2):c.1959+10C>T AND Immunodeficiency 35
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516229.2
Allele description [Variation Report for NM_003331.5(TYK2):c.1959+10C>T]
NM_003331.5(TYK2):c.1959+10C>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
-
Drosophila melanogaster Dicer-2 (Dcr-2), transcript variant B, mRNA
Drosophila melanogaster Dicer-2 (Dcr-2), transcript variant B, mRNAgi|665401662|ref|NM_001299611.1|Nucleotide
-
zinc finger protein 808 isoform 1 [Homo sapiens]
zinc finger protein 808 isoform 1 [Homo sapiens]gi|157167158|ref|NP_001034975.2|Protein
-
Homo sapiens IPW mRNA sequence
Homo sapiens IPW mRNA sequencegi|562075|gb|U12897.1|HSU12897Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024