RGD:15143190 Rat Genome Database

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Variant: RGD:15143190 -  Homo sapiens

RGD ID: 15143190
RS ID: rs749846681
ClinVar ID: CV690050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,575,523
GRCh38 12 6,466,357
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042188.2:g.9543C>T
NC_000012.12:g.6466357G>A
NC_000012.11:g.6575523G>A
NM_001297438.2:c.3-6C>T
More... 		06/24/2022 intron variant likely benign|uncertain significance Myasthenic syndrome, congenital, 25
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VAMP1
Accession:NM_001297438
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_199245
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_014231
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_016830
Location:INTRON

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002064517 CLINVAR
  RCV002272376 CLINVAR
dbSNP (RS) rs749846681 CLINVAR
MedGen C0037772 CLINVAR
  C5193027 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR
  618323 CLINVAR