RGD:15118170 Rat Genome Database

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Variant: RGD:15118170 -  Homo sapiens

RGD ID: 15118170
RS ID: rs763066492
ClinVar ID: CV757622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 56,964,536
GRCh38 20 58,389,480
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001182606.1:p.Val7=
NP_004729.1:p.Val7=
NG_008073.2:g.5292C>G
NC_000020.10:g.56964536C>G
More... 		12/31/2017 non-coding transcript variant likely benign 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_001195677
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSGRRWTADEED
SAEQQPHFSISPNWEGRRP*

Gene Symbol:VAPB
Accession:NM_004738
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDP
NEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSS
LDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGK
IAL*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002254586 CLINVAR
dbSNP (RS) rs763066492 CLINVAR
MedGen C1837728 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR