RGD:405103436 Rat Genome Database

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Variant: RGD:405103436 -  Homo sapiens

RGD ID: 405103436
ClinVar ID: CV3073688
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 139,391,544
GRCh38 9 136,497,092
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122t1:c.6647C>T
NM_017617.5:c.6647C>T
NG_007458.1:g.53695C>T
LRG_1122p1:p.Pro2216Leu
More... 		09/29/2023 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 RCV003749649 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR