RGD:152033601 Rat Genome Database

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Variant: RGD:152033601 -  Homo sapiens

RGD ID: 152033601
RS ID: rs2132148143
ClinVar ID: CV1572933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 135,797,190
GRCh38 9 132,921,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362177.2:c.300+16T>C
NM_001162427.2:c.510+16T>C
NM_000368.5:c.663+16T>C
NM_001162426.2:c.663+16T>C
More... 		08/12/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC1
Accession:NM_001406627
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001406629
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001406628
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001406626
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001406630
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:TSC1
Accession:XM_011518979
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_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_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_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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002187119 CLINVAR
dbSNP (RS) rs2132148143 CLINVAR
MedGen C1854465 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR