RGD:26885054 Rat Genome Database

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Variant: RGD:26885054 -  Homo sapiens

RGD ID: 26885054
RS ID: rs375238658
ClinVar ID: CV851781
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYK2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 10,477,259
GRCh38 19 10,366,583
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_121t1:c.466-3C>T
NM_003331.5:c.466-3C>T
LRG_121:g.18990C>T
NG_007872.1:g.18990C>T
More... 		02/06/2019 intron variant uncertain significance HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYK2
Accession:XM_011528247
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385202
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385206
Location:INTRON

Gene Symbol:TYK2
Accession:NM_003331
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385200
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528246
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439306
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385199
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385205
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439305
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528249
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385197
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439304
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385198
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385203
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385204
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439307
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385201
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001406461
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385207
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001065221 CLINVAR
dbSNP (RS) rs375238658 CLINVAR
MedGen C1969086 CLINVAR
NCBI Gene TYK2 CLINVAR
OMIM 176941 CLINVAR
  611521 CLINVAR