RGD:152154180 Rat Genome Database

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Variant: RGD:152154180 -  Homo sapiens

RGD ID: 152154180
RS ID: rs2133371738
ClinVar ID: CV1643646
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  NOTCH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,413,285
GRCh38 9 136,518,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122t1:c.866-9T>C
NM_017617.5:c.866-9T>C
LRG_1122:g.31954T>C
NG_007458.1:g.31954T>C
More... 		10/05/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Gene Symbol:LOC124902310
Accession:XR_007061865
Location:INTRON;NON-CODING

Gene Symbol:LOC124902310
Accession:XR_007061864
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002122181 CLINVAR
dbSNP (RS) rs2133371738 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR