RGD:12845719 Rat Genome Database

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Variant: RGD:12845719 -  Homo sapiens

RGD ID: 12845719
RS ID: rs75441879
ClinVar ID: CV369122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 107,188,795
GRCh38 7 107,548,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006348.3:c.386-18A>G
NC_000007.14:g.107548350T>C
NC_000007.13:g.107188795T>C
NG_028095.2:g.21165A>G
More... 		07/01/2016 intron variant benign AllHighlyPenetrant; CDG IIi; COG5-CDG; Congenital disorder of glycosylation type 2i; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG5
Accession:NM_001161520
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379511
Location:INTRON

Gene Symbol:COG5
Accession:NM_181733
Location:INTRON

Gene Symbol:COG5
Accession:NM_006348
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379514
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379516
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379512
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379513
Location:INTRON

Gene Symbol:COG5
Accession:XM_024446634
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379515
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000440324 CLINVAR
  RCV001520065 CLINVAR
dbSNP (RS) rs75441879 CLINVAR
MedGen C3150876 CLINVAR
  CN169374 CLINVAR
NCBI Gene COG5 CLINVAR
OMIM 606821 CLINVAR
  613612 CLINVAR