RGD:26910074 Rat Genome Database

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Variant: RGD:26910074 -  Homo sapiens

RGD ID: 26910074
RS ID: rs140791750
ClinVar ID: CV831470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NUS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 118,028,141
GRCh38 6 117,706,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_054913.2:g.36525G>A
NC_000006.12:g.117706978G>A
NC_000006.11:g.118028141G>A
NM_138459.3:c.845G>A
More... 		02/20/2019 missense variant uncertain significance Congenital disorder of glycosylation, type 1aa; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NUS1
Accession:NM_138459
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPPAVGRNRRHHRHPRGGSCLAA
AHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASLVVWCMAVGISYISVYDHQGIFKRNNSRLMDEILKQQQELL
GLDCSKYSPEFANSNDKDDQVLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLLSSNGCPDPDL
VLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALHQYAACEQRLGK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001038601 CLINVAR
  RCV003883535 CLINVAR
dbSNP (RS) rs140791750 CLINVAR
MedGen C3661900 CLINVAR
  C4310727 CLINVAR
NCBI Gene NUS1 CLINVAR
OMIM 610463 CLINVAR
  617082 CLINVAR