rs3812657 Rat Genome Database

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Variant: rs3812657 -  Homo sapiens

RGD ID: 150338838
RS ID: rs3812657
ClinVar ID: CV1167092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDH15  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 55,826,470
GRCh38 10 54,066,710
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142767.2:c.2109+47T>C
NM_001142768.2:c.2154+47T>C
NM_001142773.2:c.2154+47T>C
NM_001354404.2:c.2154+47T>C
More... 		07/01/2021 intron variant benign none provided; USHER SYNDROME, TYPE IF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCDH15
Accession:NM_001142769
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354420
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425663
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_033056
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142763
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354429
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001384140
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142772
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142765
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142773
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142768
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142766
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354404
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425664
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142767
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354430
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142770
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354411
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142771
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142764
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001533757 CLINVAR
  RCV001673144 CLINVAR
dbSNP (RS) rs3812657 CLINVAR
MedGen C1865885 CLINVAR
  C3661900 CLINVAR
NCBI Gene PCDH15 CLINVAR
OMIM 602083 CLINVAR
  605514 CLINVAR