RGD:11612440 Rat Genome Database

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Variant: RGD:11612440 -  Homo sapiens

RGD ID: 11612440
RS ID: rs188459017
ClinVar ID: CV337301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 76,113,332
GRCh38 14 75,646,989
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027694.1:g.73393C>T
NC_000014.9:g.75646989C>T
NC_000014.8:g.76113332C>T
NM_017791.3:c.*517C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Posterior column ataxia with retinitis pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLVCR2
Accession:NM_017791
Location:3UTRS;EXON

Gene Symbol:FLVCR2
Accession:NM_001195283
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000259478 CLINVAR
dbSNP (RS) rs188459017 CLINVAR
MedGen C1836916 CLINVAR
NCBI Gene FLVCR2 CLINVAR
OMIM 609033 CLINVAR
  610865 CLINVAR