RGD:11628719 Rat Genome Database

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Variant: RGD:11628719 -  Homo sapiens

RGD ID: 11628719
RS ID: rs192046748
ClinVar ID: CV350229
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 57,025,081
GRCh38 20 58,450,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_656t1:c.*5790G>A
LRG_656:g.65837G>A
NG_008073.2:g.65837G>A
NC_000020.11:g.58450025G>A
More... 		12/01/2022 3 prime utr variant benign|likely benign Adult proximal spinal muscular atrophy, autosomal dominant; FINKEL LATE-ADULT TYPE SMA; none provided; Spinal muscular atrophy, late-onset, finkel type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VAPB
Accession:NM_001195677
Location:3UTRS;EXON

Gene Symbol:VAPB
Accession:NM_004738
Location:3UTRS;EXON

Gene Symbol:VAPB
Accession:NR_036633
Location:EXON;NON-CODING

Gene Symbol:VAPB
Accession:XR_001754433
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307346 CLINVAR
  RCV000343522 CLINVAR
  RCV003430864 CLINVAR
dbSNP (RS) rs192046748 CLINVAR
MedGen C1837728 CLINVAR
  C1854058 CLINVAR
  C3661900 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR