RGD:28879946 Rat Genome Database

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Variant: RGD:28879946 -  Homo sapiens

RGD ID: 28879946
RS ID: rs374730084
ClinVar ID: CV900565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP418  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 96,258,694
GRCh38 8 95,246,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363260.1:c.*1151A>G
NM_177965.4:c.*1151A>G
NG_032804.1:g.27769A>G
NC_000008.11:g.95246466T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CFAP418
Accession:NM_001363260
Location:3UTRS;EXON

Gene Symbol:CFAP418
Accession:NM_177965
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167179 CLINVAR
  RCV001167180 CLINVAR
dbSNP (RS) rs374730084 CLINVAR
MedGen C0035334 CLINVAR
  C3281045 CLINVAR
NCBI Gene C8orf37 CLINVAR
OMIM 268000 CLINVAR
  614477 CLINVAR
  614500 CLINVAR
SNOMED CT 28835009 CLINVAR