RGD:11658803 Rat Genome Database

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Variant: RGD:11658803 -  Homo sapiens

RGD ID: 11658803
RS ID: rs886063629
ClinVar ID: CV317528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816463  TSC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 135,820,013
GRCh38 9 132,944,626
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_486t1:c.-227G>A
LRG_486:g.5008G>A
NG_012386.1:g.5008G>A
NC_000009.12:g.132944626C>T
More... 		06/14/2016 5 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:TSC1
Accession:XM_011518979
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001162427
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001162426
Location:INTRON

Gene Symbol:TSC1
Accession:NM_000368
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001362177
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406620
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406618
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406625
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406621
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406617
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406613
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406612
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406610
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406627
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406629
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406603
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406609
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406597
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406602
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406606
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406592
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406600
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406595
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406619
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406598
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406607
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406593
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406596
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406622
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406614
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406611
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406628
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406626
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406604
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406608
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406601
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406605
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406630
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406624
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406616
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406623
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406615
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406599
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406594
Location:INTRON

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352100 CLINVAR
  RCV000402771 CLINVAR
dbSNP (RS) rs886063629 CLINVAR
MedGen C0041341 CLINVAR
  C1846385 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR
  607341 CLINVAR
SNOMED CT 7199000 CLINVAR