RGD:13622882 Rat Genome Database

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Variant: RGD:13622882 -  Homo sapiens

RGD ID: 13622882
RS ID: rs1556488604
ClinVar ID: CV534483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG13  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 110,955,705
GRCh38 X 111,712,477
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257230.1:c.574-7T>C
NM_001257234.2:c.574-7T>C
NM_001257237.2:c.574-7T>C
NM_001257231.2:c.652-7T>C
More... 		11/06/2017 intron variant likely benign ALG13-CDG; Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALG13
Accession:XM_047442528
Location:5UTRS;INTRON

Gene Symbol:ALG13
Accession:XM_047442529
Location:5UTRS;INTRON

Gene Symbol:ALG13
Accession:NM_001039210
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531030
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029852
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442521
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442531
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001099922
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029849
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029848
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442522
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257231
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001324293
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001324294
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442526
Location:INTRON

Gene Symbol:ALG13
Accession:NM_018466
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257237
Location:INTRON

Gene Symbol:ALG13
Accession:XM_024452449
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001324292
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442524
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001168385
Location:INTRON

Gene Symbol:ALG13
Accession:XM_006724697
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531032
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029846
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029850
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257240
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531033
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257241
Location:INTRON

Gene Symbol:ALG13
Accession:XM_006724693
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442523
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257230
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257239
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257234
Location:INTRON

Gene Symbol:ALG13
Accession:XM_006724698
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001324290
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442530
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531028
Location:INTRON

Gene Symbol:ALG13
Accession:XM_017029847
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531031
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442527
Location:INTRON

Gene Symbol:ALG13
Accession:XM_011531034
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001257235
Location:INTRON

Gene Symbol:ALG13
Accession:NM_001324291
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442520
Location:INTRON

Gene Symbol:ALG13
Accession:XM_047442525
Location:INTRON

Gene Symbol:ALG13
Accession:NR_033125
Location:INTRON;NON-CODING

Gene Symbol:ALG13
Accession:NR_148693
Location:INTRON;NON-CODING

Gene Symbol:ALG13
Accession:NR_136735
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000650346 CLINVAR
dbSNP (RS) rs1556488604 CLINVAR
MedGen C4317295 CLINVAR
NCBI Gene ALG13 CLINVAR
OMIM 300776 CLINVAR
  300884 CLINVAR