RGD:28909454 Rat Genome Database

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Variant: RGD:28909454 -  Homo sapiens

RGD ID: 28909454
RS ID: rs894757078
ClinVar ID: CV897145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG5  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 106,843,344
GRCh38 7 107,202,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028095.2:g.366616A>C
NC_000007.14:g.107202899T>G
NC_000007.13:g.106843344T>G
NM_006348.3:c.*617A>C
More...
01/13/2018 3 prime utr variant uncertain significance 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_181733
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_006348
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379516
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379515
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379511
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379512
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379514
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001379513
Location:3UTRS;EXON

Gene Symbol:COG5
Accession:NM_001161520
Location:INTRON

Gene Symbol:COG5
Accession:XM_024446634
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160627 CLINVAR
dbSNP (RS) rs894757078 CLINVAR
MedGen C3150876 CLINVAR
NCBI Gene COG5 CLINVAR
OMIM 606821 CLINVAR
  613612 CLINVAR