RGD:127318448 Rat Genome Database

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Variant: RGD:127318448 -  Homo sapiens

RGD ID: 127318448
RS ID: rs770026189
ClinVar ID: CV1119535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,404,178
GRCh38 9 136,509,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017617.3:c.2969+7G>A
LRG_1122t1:c.2969+7G>A
NM_017617.5:c.2969+7G>A
LRG_1122:g.41061G>A
More... 		11/03/2021 intron variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124902310
Accession:XR_007061865
Location:EXON;NON-CODING

Gene Symbol:LOC124902310
Accession:XR_007061864
Location:EXON;NON-CODING

Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001466207 CLINVAR
  RCV003238372 CLINVAR
dbSNP (RS) rs770026189 CLINVAR
MedGen C3661900 CLINVAR
  C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR