RGD:8621695 Rat Genome Database

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Variant: RGD:8621695 -  Homo sapiens

RGD ID: 8621695
RS ID: rs62621221
ClinVar ID: CV75711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 135,804,266
GRCh38 9 132,928,879
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000368.3:c.-7C>T
NM_001362177.2:c.-266C>T
NM_001162427.2:c.-7C>T
NM_001162426.2:c.-7C>T
More... 		07/03/2018 5 prime utr variant benign|likely benign|not provided AllHighlyPenetrant; Cancer predisposition; Cortical dysplasia of Taylor; Focal cortical dysplasia of Taylor; Focal cortical dysplasia type 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tuberous sclerosis; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC1
Accession:NM_001362177
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406616
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406598
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406614
Location:5UTRS;EXON

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

Gene Symbol:TSC1
Accession:NM_001406594
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_000368
Location:5UTRS;EXON

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

Gene Symbol:TSC1
Accession:NM_001406602
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406595
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406611
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406592
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406593
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001162427
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406625
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406597
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406596
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406604
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406599
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406617
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406607
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001162426
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406605
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406613
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406610
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406600
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406601
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406624
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406623
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406621
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

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

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406619
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406609
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406608
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406615
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406627
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406622
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406630
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406612
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406603
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:XM_011518979
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406606
Location:5UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406618
Location:5UTRS;INTRON

Gene Symbol:TSC1
Accession:NM_001406620
Location:5UTRS;INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:10533067   PMID:15798777   PMID:17304050   PMID:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000054968 CLINVAR
  RCV000125621 CLINVAR
  RCV000210810 CLINVAR
  RCV001095336 CLINVAR
  RCV001167930 CLINVAR
  RCV001530001 CLINVAR
dbSNP (RS) rs62621221 CLINVAR
MedGen C0027672 CLINVAR
  C0041341 CLINVAR
  C1846385 CLINVAR
  C1854465 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR
  607341 CLINVAR
SNOMED CT 699346009 CLINVAR
  7199000 CLINVAR