RGD:405103665 Rat Genome Database

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Variant: RGD:405103665 -  Homo sapiens

RGD ID: 405103665
ClinVar ID: CV3074539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 139,399,363
GRCh38 9 136,504,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007458.1:g.45876C>T
NC_000009.12:g.136504911G>A
NC_000009.11:g.139399363G>A
LRG_1122t1:c.4780C>T
More... 		01/04/2024 missense 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 RCV003749732 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR