RGD:405103615 Rat Genome Database

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Variant: RGD:405103615 -  Homo sapiens

RGD ID: 405103615
ClinVar ID: CV3079889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,391,711
GRCh38 9 136,497,259
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017617.5:c.6480G>A
LRG_1122:g.53528G>A
NG_007458.1:g.53528G>A
NC_000009.12:g.136497259C>T
More... 		11/17/2023 synonymous variant likely benign
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 RCV003749714 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR