RGD:12836490 Rat Genome Database

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Variant: RGD:12836490 -  Homo sapiens

RGD ID: 12836490
RS ID: rs147375948
ClinVar ID: CV373093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGAT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 50,088,595
GRCh38 14 49,621,877
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.6107T>C
NC_000014.9:g.49621877T>C
NC_000014.8:g.50088595T>C
NP_002399.1:p.Asn203=
More... 		12/31/2019 synonymous variant benign|likely benign Alkuraya syndrome; AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVP
QPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEI
NQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMG
LALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLN
NNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000423478 CLINVAR
  RCV000872865 CLINVAR
dbSNP (RS) rs147375948 CLINVAR
MedGen C2931008 CLINVAR
  CN169374 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR