RGD:8691604 Rat Genome Database

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Variant: RGD:8691604 -  Homo sapiens

RGD ID: 8691604
RS ID: rs12720299
ClinVar ID: CV141571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYK2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 10,468,668
GRCh38 19 10,357,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_121t1:c.2311+11G>C
LRG_121:g.27581G>C
NG_007872.1:g.27581G>C
NC_000019.10:g.10357992C>G
More... 		06/14/2016 intron variant benign|likely benign AllHighlyPenetrant; 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:
Accession:
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385201
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385200
Location:INTRON

Gene Symbol:TYK2
Accession:NM_003331
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385204
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439306
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528246
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528247
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385206
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385202
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439307
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385199
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385205
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385207
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439304
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385197
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528249
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385203
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439305
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001406461
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385198
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126194 CLINVAR
  RCV000329556 CLINVAR
dbSNP (RS) rs12720299 CLINVAR
MedGen C1969086 CLINVAR
  CN169374 CLINVAR
NCBI Gene TYK2 CLINVAR
OMIM 176941 CLINVAR
  611521 CLINVAR