RGD:14396854 Rat Genome Database

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Variant: RGD:14396854 -  Homo sapiens

RGD ID: 14396854
RS ID: rs756540347
ClinVar ID: CV613016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP3B2  LOC130057772  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 83,378,339
GRCh38 15 82,709,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_052957.1:g.5322G>A
NC_000015.10:g.82709587C>T
NC_000015.9:g.83378339C>T
NM_001278512.2:c.113+7G>A
More... 		01/29/2024 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AP3B2
Accession:NM_004644
Location:INTRON

Gene Symbol:AP3B2
Accession:NM_001278512
Location:INTRON

Gene Symbol:AP3B2
Accession:NM_001348440
Location:INTRON

Gene Symbol:AP3B2
Accession:NM_001278511
Location:INTRON

Gene Symbol:AP3B2
Accession:NM_001348441
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000761917 CLINVAR
  RCV001251669 CLINVAR
  RCV003938147 CLINVAR
dbSNP (RS) rs756540347 CLINVAR
MedGen C3661900 CLINVAR
  C3714756 CLINVAR
NCBI Gene AP3B2 CLINVAR
  LOC130057772 CLINVAR
OMIM 602166 CLINVAR
SNOMED CT 228156007 CLINVAR