RGD:13539687 Rat Genome Database

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Variant: RGD:13539687 -  Homo sapiens

RGD ID: 13539687
RS ID: rs769949581
ClinVar ID: CV503302
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  MIR4673  NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,414,035
GRCh38 9 136,519,583
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007458.1:g.31204C>T
NC_000009.12:g.136519583G>A
NC_000009.11:g.139414035G>A
NM_017617.3:c.743-18C>T
More... 		07/24/2023 intron variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MIR4673
Accession:NR_039820
Location:EXON;NON-CODING

Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Gene Symbol:LOC124902310
Accession:XR_007061865
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613626 CLINVAR
  RCV003586201 CLINVAR
dbSNP (RS) rs769949581 CLINVAR
MedGen C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene MIR4673 CLINVAR
  NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR