rs190842171 Rat Genome Database

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Variant: rs190842171 -  Homo sapiens

RGD ID: 152048407
RS ID: rs190842171
ClinVar ID: CV1620067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 230,827,324
GRCh38 1 230,691,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145036.2:c.2112+14C>T
NM_007357.3:c.2115+14C>T
NC_000001.11:g.230691578C>T
NC_000001.10:g.230827324C>T
 01/25/2024 intron variant likely benign CDG IIq
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG2
Accession:NM_007357
Location:INTRON

Gene Symbol:COG2
Accession:XM_047449445
Location:INTRON

Gene Symbol:COG2
Accession:NM_001145036
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002207201 CLINVAR
dbSNP (RS) rs190842171 CLINVAR
MedGen C4479353 CLINVAR
NCBI Gene COG2 CLINVAR
OMIM 606974 CLINVAR
  617395 CLINVAR