RGD:28912107 Rat Genome Database

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Variant: RGD:28912107 -  Homo sapiens

RGD ID: 28912107
RS ID: rs1417886812
ClinVar ID: CV871888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGAT2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 50,089,540
GRCh38 14 49,622,822
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002408.4:c.*210C>A
NG_033054.1:g.2810G>T
NG_008920.1:g.7052C>A
NC_000014.9:g.49622822C>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 RCV001111661 CLINVAR
dbSNP (RS) rs1417886812 CLINVAR
MedGen C2931008 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR