RGD:11621660 Rat Genome Database

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Variant: RGD:11621660 -  Homo sapiens

RGD ID: 11621660
RS ID: rs139798579
ClinVar ID: CV336938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG11  LOC130009841  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 52,586,598
GRCh38 13 52,012,462
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028038.1:g.5076G>C
NC_000013.11:g.52012462G>C
NC_000013.10:g.52586598G>C
NP_001004127.2:p.Arg15Thr
More... 		10/12/2018 missense variant uncertain significance ALG11-CDG; Congenital disorder of glycosylation type 1P; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALG11
Accession:NM_001004127
Location:INTRON

Gene Symbol:ALG11
Accession:NR_036571
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000350822 CLINVAR
  RCV000493317 CLINVAR
dbSNP (RS) rs139798579 CLINVAR
MedGen C3150913 CLINVAR
  CN517202 CLINVAR
NCBI Gene ALG11 CLINVAR
  LOC130009841 CLINVAR
OMIM 613661 CLINVAR
  613666 CLINVAR