RGD:127237975 Rat Genome Database

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Variant: RGD:127237975 -  Homo sapiens

RGD ID: 127237975
RS ID: rs2117109392
ClinVar ID: CV1074286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MET  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 116,435,853
GRCh38 7 116,795,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.116435853G>A
NM_001324402.2:c.2645+8G>A
NM_000245.4:c.3935+8G>A
NM_001127500.3:c.3989+8G>A
More... 		06/06/2019 intron variant likely benign
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:XM_047420400
Location:INTRON

Gene Symbol:MET
Accession:NM_001324402
Location:INTRON

Gene Symbol:MET
Accession:NM_000245
Location:INTRON

Gene Symbol:MET
Accession:NM_001127500
Location:INTRON

Gene Symbol:MET
Accession:XM_011516223
Location:INTRON

Gene Symbol:MET
Accession:NM_001324401
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397243 CLINVAR
dbSNP (RS) rs2117109392 CLINVAR
MedGen C0007134 CLINVAR
NCBI Gene MET CLINVAR
OMIM 164860 CLINVAR
SNOMED CT 41607009 CLINVAR