RGD:11634380 Rat Genome Database

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Variant: RGD:11634380 -  Homo sapiens

RGD ID: 11634380
RS ID: rs1057516199
ClinVar ID: CV354187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1F  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 49,074,268
GRCh38 X 49,217,809
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009095.2:g.20558A>G
NC_000023.11:g.49217809T>C
NC_000023.10:g.49074268T>C
NM_005183.2:c.3070-2A>G
More... 		splice acceptor variant likely pathogenic childhood 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1F
Accession:NM_001256789
Location:INTRON

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:XM_011543983
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000408778 CLINVAR
dbSNP (RS) rs1057516199 CLINVAR
MedGen C1845407 CLINVAR
NCBI Gene CACNA1F CLINVAR
OMIM 300110 CLINVAR
  300476 CLINVAR