RGD:407501691 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:407501691 -  Homo sapiens

RGD ID: 407501691
ClinVar ID: CV3425373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP97  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 186,096,969
GRCh38 4 185,175,815
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001292033.2:c.1291G>C
NM_020827.3:c.1291G>C
NC_000004.12:g.185175815C>G
NC_000004.11:g.186096969C>G
More...
05/28/2024 missense variant uncertain significance AllHighlyPenetrant

.


Database
Acc Id
Source(s)
ClinVar RCV004607443 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CFAP97 CLINVAR
OMIM 616047 CLINVAR