RGD:8621705 Rat Genome Database

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Variant: RGD:8621705 -  Homo sapiens

RGD ID: 8621705
RS ID: rs397514842
ClinVar ID: CV75721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 135,779,797
GRCh38 9 132,904,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012386.1:g.45224G>A
NC_000009.12:g.132904410C>T
NC_000009.11:g.135779797C>T
p.(=)
More... 		07/10/2020 splice donor variant|splice-5 pathogenic|not provided all ages|childhood 1-9 / 1 000 000 Tuberous sclerosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC1
Accession:NM_001406605
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406616
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406600
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406622
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001162426
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406609
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406604
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406615
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406629
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406628
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406621
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406617
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406608
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406610
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406626
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001362177
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406614
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406613
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406593
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406630
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406623
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406592
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406618
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406597
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001162427
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406596
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406594
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406603
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406611
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406602
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406606
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406595
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406607
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406624
Location:INTRON

Gene Symbol:TSC1
Accession:XM_011518979
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406625
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406612
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406627
Location:INTRON

Gene Symbol:TSC1
Accession:NM_000368
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406620
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406619
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406598
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406601
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406599
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:23389244   PMID:25741868   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000054979 CLINVAR
  RCV000201001 CLINVAR
dbSNP (RS) rs397514842 CLINVAR
MedGen C0041341 CLINVAR
  C1854465 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR
SNOMED CT 7199000 CLINVAR