RGD:8571732 Rat Genome Database

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Variant: RGD:8571732 -  Homo sapiens

RGD ID: 8571732
RS ID: rs1555511663
ClinVar ID: CV58689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 2,130,378
GRCh38 16 2,080,377
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_005895.1:g.36072G>A
NC_000016.10:g.2080377G>A
NC_000016.9:g.2130378G>A
p.(Gly1204Arg)
More... 		11/01/2016 missense variant likely pathogenic|not provided Tuberous sclerosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC2
Accession:NM_000548
Location:INTRON

Gene Symbol:TSC2
Accession:XM_011522636
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406667
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406685
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001363528
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406688
Location:INTRON

Gene Symbol:TSC2
Accession:XM_011522639
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001318832
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406695
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406694
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406671
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406677
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406686
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406663
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406679
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001077183
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406687
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406664
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406681
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406668
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406673
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001114382
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001318831
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001370404
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406693
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406683
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406697
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406682
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001370405
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406675
Location:INTRON

Gene Symbol:TSC2
Accession:XM_011522637
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001318829
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406689
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406698
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406665
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406670
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406676
Location:INTRON

Gene Symbol:TSC2
Accession:XM_011522638
Location:INTRON

Gene Symbol:TSC2
Accession:NM_021055
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406680
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406691
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001318827
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406690
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406692
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406696
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406684
Location:INTRON

Gene Symbol:TSC2
Accession:NM_001406678
Location:INTRON

Gene Symbol:TSC2
Accession:NR_176226
Location:INTRON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176228
Location:INTRON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176225
Location:INTRON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176229
Location:INTRON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176227
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10942116   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000042787 CLINVAR
  RCV000660346 CLINVAR
dbSNP (RS) rs1555511663 CLINVAR
MedGen C0041341 CLINVAR
  C1860707 CLINVAR
NCBI Gene TSC2 CLINVAR
OMIM 191092 CLINVAR
  191100 CLINVAR
  613254 CLINVAR
SNOMED CT 7199000 CLINVAR