RGD:15168631 Rat Genome Database

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Variant: RGD:15168631 -  Homo sapiens

RGD ID: 15168631
RS ID: rs8192567
ClinVar ID: CV777618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 32,178,520
GRCh38 6 32,210,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004557.4:c.2865+9G>T
NG_028190.1:g.18325G>T
NC_000006.12:g.32210743C>A
NC_000006.11:g.32178520C>A
More... 		06/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOTCH4
Accession:NM_004557
Location:INTRON

Gene Symbol:NOTCH4
Accession:NR_134949
Location:INTRON;NON-CODING

Gene Symbol:NOTCH4
Accession:NR_134950
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000949297 CLINVAR
dbSNP (RS) rs8192567 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOTCH4 CLINVAR
OMIM 164951 CLINVAR