RGD:152072930 Rat Genome Database

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Variant: RGD:152072930 -  Homo sapiens

RGD ID: 152072930
RS ID: rs2145219225
ClinVar ID: CV1522842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYK2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 10,472,873
GRCh38 19 10,362,197
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001385201.1:c.1472-16T>C
NM_001385206.1:c.1544-16T>C
NM_001385205.1:c.1580-16T>C
NM_001385197.1:c.1670-16T>C
More... 		10/26/2020 intron variant likely benign 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_047439307
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385199
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385205
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439306
Location:INTRON

Gene Symbol:TYK2
Accession:NM_003331
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439304
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439305
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528246
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528247
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528249
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385200
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385204
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001406461
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385197
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385203
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385201
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385207
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385206
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385202
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385198
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002148331 CLINVAR
dbSNP (RS) rs2145219225 CLINVAR
MedGen C1969086 CLINVAR
NCBI Gene TYK2 CLINVAR
OMIM 176941 CLINVAR
  611521 CLINVAR