RGD:405102984 Rat Genome Database

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Variant: RGD:405102984 -  Homo sapiens

RGD ID: 405102984
ClinVar ID: CV2973246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  NOTCH1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,405,222
GRCh38 9 136,510,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122t1:c.2623C>A
NM_017617.5:c.2623C>A
LRG_1122:g.40017C>A
NG_007458.1:g.40017C>A
More... 		11/16/2022 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 RCV003749505 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR