RGD:127310850 Rat Genome Database

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Variant: RGD:127310850 -  Homo sapiens

RGD ID: 127310850
RS ID: rs111871296
ClinVar ID: CV1144292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG11  LOC130009842  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 52,586,752
GRCh38 13 52,012,616
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004127.3:c.44+154G>A
NG_028038.1:g.5230G>A
NC_000013.11:g.52012616G>A
NG_008806.1:g.3879C>T
More... 		11/21/2020 intron variant likely benign 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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001481254 CLINVAR
  RCV001561412 CLINVAR
dbSNP (RS) rs111871296 CLINVAR
MedGen C3150913 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALG11 CLINVAR
  LOC130009842 CLINVAR
OMIM 613661 CLINVAR
  613666 CLINVAR