RGD:38475528 Rat Genome Database

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Variant: RGD:38475528 -  Homo sapiens

RGD ID: 38475528
RS ID: rs1691515345
ClinVar ID: CV939916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAT2A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 85,770,019
GRCh38 2 85,542,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005911.6:c.952-5T>C
NG_011811.2:g.23639A>G
NG_029183.1:g.8919T>C
NC_000002.12:g.85542896T>C
More... 		08/16/2022 intron variant likely benign|uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAT2A
Accession:NM_005911
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001204050 CLINVAR
dbSNP (RS) rs1691515345 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene MAT2A CLINVAR
OMIM 601468 CLINVAR