RGD:597797121 Rat Genome Database

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Variant: RGD:597797121 -  Homo sapiens

RGD ID: 597797121
ClinVar ID: CV3659703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP97  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 186,112,310
GRCh38 4 185,191,156
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001292033.2:c.41A>G
NM_020827.3:c.41A>G
NC_000004.12:g.185191156T>C
NC_000004.11:g.186112310T>C
More... 		11/09/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004904249 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CFAP97 CLINVAR
OMIM 616047 CLINVAR