RGD:26903749 Rat Genome Database

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Variant: RGD:26903749 -  Homo sapiens

RGD ID: 26903749
RS ID: rs747379918
ClinVar ID: CV850889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAT2A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 85,768,949
GRCh38 2 85,541,826
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.406-3T>C
NG_029183.1:g.7849T>C
NC_000002.12:g.85541826T>C
NC_000002.11:g.85768949T>C
More... 		01/29/2021 intron variant likely benign|uncertain significance none provided; 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001050853 CLINVAR
  RCV001772255 CLINVAR
dbSNP (RS) rs747379918 CLINVAR
MedGen C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene MAT2A CLINVAR
OMIM 601468 CLINVAR