NM_003331.5(TYK2):c.662G>A (p.Arg221Gln) AND Immunodeficiency 35
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000824579.7
Allele description [Variation Report for NM_003331.5(TYK2):c.662G>A (p.Arg221Gln)]
NM_003331.5(TYK2):c.662G>A (p.Arg221Gln)
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
-
C-terminal-binding protein 2 isoform X2 [Taeniopygia guttata]
C-terminal-binding protein 2 isoform X2 [Taeniopygia guttata]gi|1720781821|ref|XP_030132461.1|Protein
-
PREDICTED: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2 [Ta...
PREDICTED: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2 [Tauraco erythrolophus]gi|701326410|ref|XP_009975528.1|Protein
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Last Updated: Sep 29, 2024