RGD:152117094 Rat Genome Database

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Variant: RGD:152117094 -  Homo sapiens

RGD ID: 152117094
RS ID: rs1396339539
ClinVar ID: CV1623012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP2S1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 47,354,001
GRCh38 19 46,850,744
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301081.3:c.-80C>T
NM_001301078.3:c.3+20C>T
NM_004069.6:c.3+20C>T
NM_021575.5:c.3+20C>T
More... 		04/13/2021 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AP2S1
Accession:NM_001301081
Location:5UTRS;EXON

Gene Symbol:AP2S1
Accession:XM_011526424
Location:5UTRS;EXON

Gene Symbol:AP2S1
Accession:XM_011526423
Location:5UTRS;EXON

Gene Symbol:AP2S1
Accession:NM_021575
Location:INTRON

Gene Symbol:AP2S1
Accession:NM_004069
Location:INTRON

Gene Symbol:AP2S1
Accession:NM_001301078
Location:INTRON

Gene Symbol:AP2S1
Accession:NM_001301076
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002117340 CLINVAR
dbSNP (RS) rs1396339539 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AP2S1 CLINVAR
OMIM 602242 CLINVAR