RGD:151726617 Rat Genome Database

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Variant: RGD:151726617 -  Homo sapiens

RGD ID: 151726617
RS ID: rs771796946
ClinVar ID: CV1433542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,574,047
GRCh38 12 6,464,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297438.2:c.340+9C>T
NM_014231.5:c.340+9C>T
NM_016830.4:c.340+9C>T
NM_199245.3:c.349C>T
More... 		03/11/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VAMP1
Accession:NM_199245
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQKLSELDDRADALQAGASQFE
SSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVSKYS*

Gene Symbol:VAMP1
Accession:NM_016830
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_001297438
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_014231
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

Gene Symbol:TAPBPL
Accession:NR_147128
Location:INTRON;NON-CODING

Gene Symbol:VAMP1
Accession:NR_123717
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:XR_001748777
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147129
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147127
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:XR_001748778
Location:INTRON;NON-CODING

Gene Symbol:TAPBPL
Accession:NR_147126
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001983757 CLINVAR
dbSNP (RS) rs771796946 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR