RGD:11650819 Rat Genome Database

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Variant: RGD:11650819 -  Homo sapiens

RGD ID: 11650819
RS ID: rs886045929
ClinVar ID: CV280186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 213,068,640
GRCh38 1 212,895,298
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_028131.1:g.42044G>A
NC_000001.11:g.212895298G>A
NC_000001.10:g.213068640G>A
NM_014053.3:c.*8G>A
More... 		06/14/2016 3 prime utr variant uncertain significance childhood <1 / 1 000 000 Posterior column ataxia with retinitis pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:NM_014053
Location:3UTRS;EXON

Gene Symbol:FLVCR1
Accession:XR_247024
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_007059232
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XM_011509447
Location:INTRON

Gene Symbol:FLVCR1
Accession:XM_011509448
Location:INTRON

Gene Symbol:FLVCR1
Accession:XR_426771
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426772
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_921769
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295150 CLINVAR
dbSNP (RS) rs886045929 CLINVAR
MedGen C1836916 CLINVAR
NCBI Gene FLVCR1 CLINVAR
OMIM 609033 CLINVAR
  609144 CLINVAR