RGD:405102555 Rat Genome Database

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Variant: RGD:405102555 -  Homo sapiens

RGD ID: 405102555
ClinVar ID: CV2967045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,396,275
GRCh38 9 136,501,823
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122:g.48964A>C
NG_007458.1:g.48964A>C
NC_000009.12:g.136501823T>G
NC_000009.11:g.139396275T>G
More... 		11/28/2022 missense 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 RCV003749351 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR