RGD:127265356 Rat Genome Database

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Variant: RGD:127265356 -  Homo sapiens

RGD ID: 127265356
RS ID: rs2123058654
ClinVar ID: CV1085410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 56,993,286
GRCh38 20 58,418,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195677.2:c.78C>T
NM_004738.5:c.78C>T
LRG_656:g.34042C>T
NG_008073.2:g.34042C>T
More... 		03/10/2020 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_004738
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDP
NEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSS
LDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGK
IAL*

Gene Symbol:VAPB
Accession:NM_001195677
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSGRRWTADEED
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 RCV002254653 CLINVAR
dbSNP (RS) rs2123058654 CLINVAR
MedGen C1837728 CLINVAR
NCBI Gene VAPB CLINVAR
OMIM 182980 CLINVAR
  605704 CLINVAR
  608627 CLINVAR