RGD:155801010 Rat Genome Database

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Variant: RGD:155801010 -  Homo sapiens

RGD ID: 155801010
ClinVar ID: CV1863959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,579,686
GRCh38 12 6,470,520
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.2+10C>T
NM_014231.5:c.2+10C>T
NM_199245.3:c.2+10C>T
NG_042188.2:g.5380C>T
More... 		11/24/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TAPBPL
Accession:XR_001748778
Location:EXON;NON-CODING

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

Gene Symbol:VAMP1
Accession:NM_014231
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_016830
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_199245
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_018009
Location:INTRON

Gene Symbol:VAMP1
Accession:NM_001297438
Location:INTRON

Gene Symbol:TAPBPL
Accession:NM_001351355
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002474383 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR