RGD:10449644 Rat Genome Database

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Variant: RGD:10449644 -  Homo sapiens

RGD ID: 10449644
RS ID: rs140584714
ClinVar ID: CV215480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827540  MGAT2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,088,085
GRCh38 14 49,621,367
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.5597G>T
NC_000014.9:g.49621367G>T
NC_000014.8:g.50088085G>T
NP_002399.1:p.Lys33Asn
More... 		12/31/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGAT2
Accession:NM_002408
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRNNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVP
QPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEI
NQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMG
LALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLN
NNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202676 CLINVAR
  RCV000864413 CLINVAR
  RCV001722114 CLINVAR
  RCV002515496 CLINVAR
  RCV003937766 CLINVAR
dbSNP (RS) rs140584714 CLINVAR
MedGen C0950123 CLINVAR
  C2931008 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR