RGD:152082329 Rat Genome Database

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Variant: RGD:152082329 -  Homo sapiens

RGD ID: 152082329
RS ID: rs777747818
ClinVar ID: CV1551897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 70,524,304
GRCh38 16 70,490,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.70490401T>G
NC_000016.9:g.70524304T>G
NM_001195139.2:c.1635+5865A>C
NM_015386.3:c.1648-9A>C
More... 		08/11/2021 intron variant likely benign CDG IIj; COG4-CDG; Congenital disorder of glycosylation type 2J; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG4
Accession:NM_015386
Location:INTRON

Gene Symbol:COG4
Accession:NM_001195139
Location:INTRON

Gene Symbol:COG4
Accession:NM_001365426
Location:INTRON

Gene Symbol:COG4
Accession:NR_158212
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002093017 CLINVAR
dbSNP (RS) rs777747818 CLINVAR
MedGen C4303552 CLINVAR
NCBI Gene COG4 CLINVAR
OMIM 606976 CLINVAR
  613489 CLINVAR