RGD:402513147 Rat Genome Database

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Variant: RGD:402513147 -  Homo sapiens

RGD ID: 402513147
ClinVar ID: CV2855360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDH15  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 56,138,717
GRCh38 10 54,378,957
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142764.2:c.158-15T>C
NM_001142765.2:c.158-15T>C
NM_001142766.2:c.158-15T>C
NM_001142767.2:c.158-15T>C
More... 		12/02/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PCDH15
Accession:NM_001142768
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354404
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142771
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142769
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142773
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_033056
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354429
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142770
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142765
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425663
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425664
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354420
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354411
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354430
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142772
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142764
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142767
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142766
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142763
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001384140
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003547188 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PCDH15 CLINVAR
OMIM 605514 CLINVAR