RGD:405166758 Rat Genome Database

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Variant: RGD:405166758 -  Homo sapiens

RGD ID: 405166758
ClinVar ID: CV2892901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860794  NOTCH1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,393,464
GRCh38 9 136,499,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122t1:c.6083-16T>G
NM_017617.5:c.6083-16T>G
LRG_1122:g.51775T>G
NG_007458.1:g.51775T>G
More... 		10/04/2023 intron 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 RCV003587222 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene LOC126860794 CLINVAR
  NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR