RGD:11649739 Rat Genome Database

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Variant: RGD:11649739 -  Homo sapiens

RGD ID: 11649739
RS ID: rs886063602
ClinVar ID: CV317014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 135,769,258
GRCh38 9 132,893,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_486t1:c.*2364T>A
LRG_486:g.55763T>A
NG_012386.1:g.55763T>A
NC_000009.12:g.132893871A>T
More... 		06/14/2016 3 prime utr variant uncertain significance Cortical dysplasia of Taylor; Focal cortical dysplasia of Taylor; Focal cortical dysplasia type 2; Tuberous sclerosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406618
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:XM_011518979
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406606
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406604
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406623
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406597
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001162426
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406610
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406608
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406615
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406620
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406619
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406609
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406598
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001162427
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406627
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406593
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406596
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406611
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406630
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406599
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406617
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406629
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406603
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406602
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406622
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406614
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406601
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406605
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_000368
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001362177
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406613
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406607
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406612
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406625
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406621
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406592
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406600
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406595
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406628
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406626
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406624
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406616
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406594
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NR_176215
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176217
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176214
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176218
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176216
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000289212 CLINVAR
  RCV000397317 CLINVAR
dbSNP (RS) rs886063602 CLINVAR
MedGen C0041341 CLINVAR
  C1846385 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR
  607341 CLINVAR
SNOMED CT 7199000 CLINVAR