RGD:407450922 Rat Genome Database

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Variant: RGD:407450922 -  Homo sapiens

RGD ID: 407450922
ClinVar ID: CV3425957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 71,197,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018714.3:c.1909G>C
NG_008971.1:g.13703G>C
NC_000017.11:g.73201736G>C
NC_000017.10:g.71197875G>C
More... 		06/07/2024 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004607860 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene COG1 CLINVAR
OMIM 606973 CLINVAR