RGD:13611275 Rat Genome Database

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Variant: RGD:13611275 -  Homo sapiens

RGD ID: 13611275
RS ID: rs1456089445
ClinVar ID: CV533631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 56,993,312
GRCh38 20 58,418,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_656:g.34068C>T
NG_008073.2:g.34068C>T
NC_000020.10:g.56993312C>T
LRG_656t1:c.104C>T
More... 		11/09/2017 missense variant 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: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNLTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDP
NEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSS
LDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGK
IAL*

Gene Symbol:VAPB
Accession:NM_001195677
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNLTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSGRRWTADEED
SAEQQPHFSISPNWEGRRP*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002254563 CLINVAR
dbSNP (RS) rs1456089445 CLINVAR
MedGen C1837728 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR