NM_003331.5(TYK2):c.1191G>A (p.Arg397=) AND Immunodeficiency 35
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003877145.2
Allele description [Variation Report for NM_003331.5(TYK2):c.1191G>A (p.Arg397=)]
NM_003331.5(TYK2):c.1191G>A (p.Arg397=)
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
-
Homo sapiens vacuolar protein sorting VPS4-1 (VPS4-1) gene, complete cds
Homo sapiens vacuolar protein sorting VPS4-1 (VPS4-1) gene, complete cdsgi|14028570|gb|AF255952.1|Nucleotide
-
Homo sapiens vacuolar protein sorting 4 homolog A (VPS4A), mRNA
Homo sapiens vacuolar protein sorting 4 homolog A (VPS4A), mRNAgi|1519246045|ref|NM_013245.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024