RGD:11646010 Rat Genome Database

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Variant: RGD:11646010 -  Homo sapiens

RGD ID: 11646010
RS ID: rs886054132
ClinVar ID: CV347912
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYK2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 10,465,179
GRCh38 19 10,354,503
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_121t1:c.2715+9C>T
LRG_121:g.31070C>T
NG_007872.1:g.31070C>T
NC_000019.10:g.10354503G>A
More... 		09/27/2023 intron variant likely benign|conflicting interpretations of pathogenicity|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:NM_001385203
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385207
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385204
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439307
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001406461
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385200
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528246
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439305
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385199
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385201
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385197
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439304
Location:INTRON

Gene Symbol:TYK2
Accession:NM_003331
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528249
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385205
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385198
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439306
Location:INTRON

Gene Symbol:
Accession:
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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000268341 CLINVAR
  RCV003897747 CLINVAR
dbSNP (RS) rs886054132 CLINVAR
MedGen C1969086 CLINVAR
NCBI Gene TYK2 CLINVAR
OMIM 176941 CLINVAR
  611521 CLINVAR