RGD:402470106 Rat Genome Database

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Variant: RGD:402470106 -  Homo sapiens

RGD ID: 402470106
ClinVar ID: CV3171065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDH15  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 55,892,621
GRCh38 10 54,132,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142765.2:c.1784+20239T>G
NM_001142767.2:c.1806+14T>G
NM_001142768.2:c.1851+14T>G
NM_001142773.2:c.1851+14T>G
More... 		11/08/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PCDH15
Accession:NM_001142772
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142771
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142770
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142769
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142773
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142768
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142767
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142765
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142766
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_033056
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142764
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001142763
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354420
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354429
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354411
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354404
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001354430
Location:INTRON

Gene Symbol:PCDH15
Accession:NM_001384140
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425663
Location:INTRON

Gene Symbol:PCDH15
Accession:XM_047425664
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003874028 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PCDH15 CLINVAR
OMIM 605514 CLINVAR