RGD:11628956 Rat Genome Database

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Variant: RGD:11628956 -  Homo sapiens

RGD ID: 11628956
RS ID: rs777316448
ClinVar ID: CV350187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,014,017
GRCh38 20 58,438,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_656t1:c.332C>T
LRG_656:g.54773C>T
NG_008073.2:g.54773C>T
NC_000020.11:g.58438961C>T
More... 		07/11/2021 intron variant likely benign|uncertain significance Adult proximal spinal muscular atrophy, autosomal dominant; Adult-onset proximal spinal muscular atrophy, autosomal dominant; FINKEL LATE-ADULT TYPE SMA; Spinal muscular atrophy, late-onset, finkel type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VAPB
Accession:NM_004738
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDP
NEKSKHKFMVQSMFAPTDTSDMEAVWKEAKLEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSS
LDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGK
IAL*

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

Gene Symbol:VAPB
Accession:NM_001195677
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:35896380  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000312731 CLINVAR
  RCV000348929 CLINVAR
  RCV002254546 CLINVAR
  RCV002323548 CLINVAR
dbSNP (RS) rs777316448 CLINVAR
MedGen C0950123 CLINVAR
  C1837728 CLINVAR
  C1854058 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR