RGD:13704437 Rat Genome Database

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Variant: RGD:13704437 -  Homo sapiens

RGD ID: 13704437
RS ID: rs760702631
ClinVar ID: CV537863
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  NOTCH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 139,413,885
GRCh38 9 136,519,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.136519433G>A
NC_000009.11:g.139413885G>A
LRG_1122:g.31354C>T
NM_017617.4:c.865+10C>T
More... 		09/09/2019 intron variant likely benign|uncertain significance Connective tissue disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660140 CLINVAR
  RCV001469626 CLINVAR
  RCV003938013 CLINVAR
dbSNP (RS) rs760702631 CLINVAR
MedGen C0009782 CLINVAR
  C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR