RGD:12901015 Rat Genome Database

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Variant: RGD:12901015 -  Homo sapiens

RGD ID: 12901015
RS ID: rs782485066
ClinVar ID: CV411399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1F  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 49,079,594
GRCh38 X 49,223,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009095.2:g.15232C>T
NC_000023.11:g.49223135G>A
NC_000023.10:g.49079594G>A
NM_005183.2:c.1912C>T
More... 		02/22/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1F
Accession:NM_001256790
Location:EXON

Gene Symbol:CACNA1F
Accession:NM_001256789
Location:EXON

Gene Symbol:CACNA1F
Accession:XM_011543983
Location:EXON

Gene Symbol:CACNA1F
Accession:NM_005183
Location:EXON

Gene Symbol:CACNA1F
Accession:XM_017029836
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000483687 CLINVAR
dbSNP (RS) rs782485066 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CACNA1F CLINVAR
OMIM 300110 CLINVAR