RGD:11657812 Rat Genome Database

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Variant: RGD:11657812 -  Homo sapiens

RGD ID: 11657812
RS ID: rs886048517
ClinVar ID: CV328523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BANF1  LOC127821519  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 65,771,307
GRCh38 11 66,003,836
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
NM_001143985.1:c.*64T>A
NG_031874.1:g.6758T>A
NC_000011.10:g.66003836T>A
NC_000011.9:g.65771307T>A
More... 		06/14/2016 3 prime utr variant uncertain significance childhood <1 / 1 000 000 PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BANF1
Accession:NM_003860
Location:3UTRS;EXON

Gene Symbol:BANF1
Accession:NM_001143985
Location:3UTRS;EXON

Gene Symbol:BANF1
Accession:XM_017018515
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000344282 CLINVAR
dbSNP (RS) rs886048517 CLINVAR
MedGen C3151446 CLINVAR
NCBI Gene BANF1 CLINVAR
OMIM 603811 CLINVAR
  614008 CLINVAR