RGD:11600070 Rat Genome Database

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Variant: RGD:11600070 -  Homo sapiens

RGD ID: 11600070
RS ID: rs141942063
ClinVar ID: CV315622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP418  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 96,257,228
GRCh38 8 95,245,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032804.1:g.29235G>T
NC_000008.11:g.95245000C>A
NC_000008.10:g.96257228C>A
NM_001363260.1:c.*2617G>T
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 RCV000270615 CLINVAR
  RCV000332599 CLINVAR
dbSNP (RS) rs141942063 CLINVAR
MedGen C0035334 CLINVAR
  C3281045 CLINVAR
NCBI Gene C8orf37 CLINVAR
OMIM 268000 CLINVAR
  614477 CLINVAR
  614500 CLINVAR
SNOMED CT 28835009 CLINVAR