RGD:12883992 Rat Genome Database

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Variant: RGD:12883992 -  Homo sapiens

RGD ID: 12883992
RS ID: rs1060504526
ClinVar ID: CV397358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,402,674
GRCh38 9 136,508,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007458.1:g.42565T>C
NC_000009.12:g.136508222A>G
NC_000009.11:g.139402674A>G
NM_017617.3:c.3325+10T>C
More... 		07/12/2016 intron variant likely benign neonatal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001489999 CLINVAR
dbSNP (RS) rs1060504526 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR