RGD:14698636 Rat Genome Database

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Variant: RGD:14698636 -  Homo sapiens

RGD ID: 14698636
RS ID: rs1602653742
ClinVar ID: CV623944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1F  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 49,084,910
GRCh38 X 49,228,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005183.4:c.818-1G>A
NG_009095.2:g.9919G>A
NC_000023.11:g.49228448C>T
NC_000023.10:g.49084910C>T
More... 		04/01/2018 splice acceptor variant likely pathogenic 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:CACNA1F
Accession:XM_017029836
Location:INTRON

Gene Symbol:CACNA1F
Accession:NM_005183
Location:INTRON

Gene Symbol:CACNA1F
Accession:NM_001256790
Location:INTRON

Gene Symbol:CACNA1F
Accession:NM_001256789
Location:INTRON

Gene Symbol:CACNA1F
Accession:XM_011543983
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:30718709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000787556 CLINVAR
dbSNP (RS) rs1602653742 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CACNA1F CLINVAR
OMIM 268000 CLINVAR
  300110 CLINVAR
SNOMED CT 28835009 CLINVAR