NM_003331.5(TYK2):c.703C>T (p.Arg235Trp) AND Immunodeficiency 35
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001942668.5
Allele description [Variation Report for NM_003331.5(TYK2):c.703C>T (p.Arg235Trp)]
NM_003331.5(TYK2):c.703C>T (p.Arg235Trp)
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
-
zinc finger protein 793 isoform X1 [Homo sapiens]
zinc finger protein 793 isoform X1 [Homo sapiens]gi|2462565360|ref|XP_054176968.1|Protein
-
cytochrome oxidase subunit I, partial (mitochondrion) [Atys semistriata]
cytochrome oxidase subunit I, partial (mitochondrion) [Atys semistriata]gi|1798058070|gb|QHI07421.1|Protein
-
ND4L [Clupea pallasii]
ND4L [Clupea pallasii]Gene ID:5228464Gene
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Last Updated: Sep 29, 2024