RGD:156346171 Rat Genome Database

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Variant: RGD:156346171 -  Homo sapiens

RGD ID: 156346171
ClinVar ID: CV1995238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGAT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 50,088,834
GRCh38 14 49,622,116
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.848G>A
NG_033054.1:g.3516C>T
NG_008920.1:g.6346G>A
NC_000014.9:g.49622116G>A
More... 		03/11/2022 missense 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:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVP
QPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEI
NQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQEYPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMG
LALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLN
NNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002650584 CLINVAR
MedGen C2931008 CLINVAR
NCBI Gene MGAT2 CLINVAR
OMIM 212066 CLINVAR
  602616 CLINVAR