RGD:11613961 Rat Genome Database

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Variant: RGD:11613961 -  Homo sapiens

RGD ID: 11613961
RS ID: rs1011373
ClinVar ID: CV337962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGAT2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 50,089,696
GRCh38 14 49,622,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008920.1:g.7208C>G
NC_000014.9:g.49622978C>G
NC_000014.8:g.50089696C>G
NM_002408.4:c.*366C>G
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance Alkuraya syndrome; Carbohydrate-deficient glycoprotein syndrome; CDG 2A; CDG IIa; Congenital disorder of glycosylation type 2A; Congenital disorder of glycosylation, type IIa; Congenital disorders of glycosylation; 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 RCV000273304 CLINVAR
  RCV001112128 CLINVAR
dbSNP (RS) rs1011373 CLINVAR
MedGen C0282577 CLINVAR
  C2931008 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR
SNOMED CT 238049009 CLINVAR