RGD:11094963 Rat Genome Database

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Variant: RGD:11094963 -  Homo sapiens

RGD ID: 11094963
RS ID: rs373004429
ClinVar ID: CV235123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,129,669
GRCh38 16 2,079,668
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_487:g.35363G>T
NG_005895.1:g.35363G>T
NC_000016.10:g.2079668G>T
NC_000016.9:g.2129669G>T
More...
11/07/2021 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adult Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC2
Accession:NM_000548
Location:EXON

Gene Symbol:TSC2
Accession:NM_001114382
Location:EXON

Gene Symbol:TSC2
Accession:NM_001077183
Location:EXON

Gene Symbol:TSC2
Accession:XM_011522638
Location:EXON

Gene Symbol:TSC2
Accession:XM_011522636
Location:EXON

Gene Symbol:TSC2
Accession:XM_011522637
Location:EXON

Gene Symbol:TSC2
Accession:XM_011522639
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:TSC2
Accession:NM_001318827
Location:EXON

Gene Symbol:TSC2
Accession:NM_001318831
Location:EXON

Gene Symbol:TSC2
Accession:NM_001318829
Location:EXON

Gene Symbol:TSC2
Accession:NM_001318832
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:TSC2
Accession:NM_001363528
Location:EXON

Gene Symbol:TSC2
Accession:NM_001370405
Location:EXON

Gene Symbol:TSC2
Accession:NM_001370404
Location:EXON

Gene Symbol:TSC2
Accession:NM_021055
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406693
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406667
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406668
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406680
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406683
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406687
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406689
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406690
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406692
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406691
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406697
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406698
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406663
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406664
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406665
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406694
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406695
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406696
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406671
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406673
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406681
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406670
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406678
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406682
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406684
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406685
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406688
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406677
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406675
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406676
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406679
Location:EXON

Gene Symbol:TSC2
Accession:NM_001406686
Location:EXON

Gene Symbol:TSC2
Accession:NR_176226
Location:EXON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176227
Location:EXON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176225
Location:EXON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176228
Location:EXON;NON-CODING

Gene Symbol:TSC2
Accession:NR_176229
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000221717 CLINVAR
  RCV000644132 CLINVAR
dbSNP (RS) rs373004429 CLINVAR
MedGen C0027672 CLINVAR
  C1860707 CLINVAR
NCBI Gene TSC2 CLINVAR
OMIM 191092 CLINVAR
  613254 CLINVAR
SNOMED CT 699346009 CLINVAR