RGD:405110560 Rat Genome Database

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Variant: RGD:405110560 -  Homo sapiens

RGD ID: 405110560
ClinVar ID: CV3077012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 135,777,011
GRCh38 9 132,901,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001406625.1:c.2094+7C>G
NM_001406624.1:c.2097+7C>G
NM_001406620.1:c.2101C>G
NM_001406621.1:c.2101C>G
More... 		05/25/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003615476 CLINVAR
MedGen C1854465 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR