RGD:28867914 Rat Genome Database

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Variant: RGD:28867914 -  Homo sapiens

RGD ID: 28867914
RS ID: rs757674496
ClinVar ID: CV871890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGAT2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,089,702
GRCh38 14 49,622,984
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.8:g.50089702A>T
NM_002408.3:c.*372A>T
NM_002408.4:c.*372A>T
NG_033054.1:g.2648T>A
More... 		01/13/2018 3 prime utr variant uncertain significance Alkuraya syndrome; CDG 2A; CDG IIa; Congenital disorder of glycosylation type 2A; Congenital disorder of glycosylation, type IIa; MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH; MGAT2-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGAT2
Accession:NM_002408
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001112129 CLINVAR
dbSNP (RS) rs757674496 CLINVAR
MedGen C2931008 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR