RGD:126767483 Rat Genome Database

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Variant: RGD:126767483 -  Homo sapiens

RGD ID: 126767483
RS ID: rs1795214615
ClinVar ID: CV1027641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MET  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 116,423,524
GRCh38 7 116,783,470
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001324402.2:c.2508+1G>A
NM_000245.4:c.3798+1G>A
NM_001127500.3:c.3852+1G>A
LRG_662:g.116066G>A
More... 		05/04/2020 splice donor variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MET
Accession:NM_000245
Location:INTRON

Gene Symbol:MET
Accession:XM_047420400
Location:INTRON

Gene Symbol:MET
Accession:XM_011516223
Location:INTRON

Gene Symbol:MET
Accession:NM_001324401
Location:INTRON

Gene Symbol:MET
Accession:NM_001127500
Location:INTRON

Gene Symbol:MET
Accession:NM_001324402
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001342839 CLINVAR
dbSNP (RS) rs1795214615 CLINVAR
MedGen C0007134 CLINVAR
NCBI Gene MET CLINVAR
OMIM 164860 CLINVAR
SNOMED CT 41607009 CLINVAR