RGD:38479408 Rat Genome Database

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Variant: RGD:38479408 -  Homo sapiens

RGD ID: 38479408
RS ID: rs1432561660
ClinVar ID: CV940055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 106,924,180
GRCh38 7 107,283,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379511.1:c.1314-2336C>T
NM_001161520.2:c.1314-3C>T
NM_001379512.1:c.1314-3C>T
NM_001379513.1:c.1314-3C>T
More... 		10/07/2019 intron 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_001161520
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379516
Location:INTRON

Gene Symbol:COG5
Accession:NM_181733
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379512
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379515
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379514
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379511
Location:INTRON

Gene Symbol:COG5
Accession:NM_006348
Location:INTRON

Gene Symbol:COG5
Accession:XM_024446634
Location:INTRON

Gene Symbol:COG5
Accession:NM_001379513
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001205968 CLINVAR
dbSNP (RS) rs1432561660 CLINVAR
MedGen C3150876 CLINVAR
NCBI Gene COG5 CLINVAR
OMIM 606821 CLINVAR
  613612 CLINVAR