RGD:11609121 Rat Genome Database

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Variant: RGD:11609121 -  Homo sapiens

RGD ID: 11609121
RS ID: rs200751186
ClinVar ID: CV320000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG11  UTP14C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 52,602,449
GRCh38 13 52,028,313
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.1208-6T>C
NG_028038.1:g.20927T>C
NC_000013.11:g.52028313T>C
NC_000013.10:g.52602449T>C
More... 		09/24/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance ALG11-CDG; Congenital disorder of glycosylation type 1P; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UTP14C
Accession:NM_021645
Location:5UTRS;INTRON

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 RCV000364304 CLINVAR
dbSNP (RS) rs200751186 CLINVAR
MedGen C3150913 CLINVAR
NCBI Gene ALG11 CLINVAR
  UTP14C CLINVAR
OMIM 608969 CLINVAR
  613661 CLINVAR
  613666 CLINVAR