RGD:13802357 Rat Genome Database

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Variant: RGD:13802357 -  Homo sapiens

RGD ID: 13802357
RS ID: rs1561376123
ClinVar ID: CV560458
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPLANE1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 37,139,473
GRCh38 5 37,139,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.37139371C>G
NC_000005.9:g.37139473C>G
NM_023073.4:c.8471-1G>C
NG_032772.3:g.115005G>C
More... 		11/11/2022 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CPLANE1
Accession:XM_005248346
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248349
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417568
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417566
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417550
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417567
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417554
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_017009761
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_001384732
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417573
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417578
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_023073
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_017009766
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417557
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417563
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417551
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514086
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417561
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417558
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417544
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_024446183
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417553
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417552
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417542
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417571
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417570
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417564
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417560
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417545
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417576
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514085
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417548
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514087
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417547
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417579
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248350
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417572
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417549
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417541
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248347
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514088
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417559
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_006714491
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514090
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417575
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417543
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417569
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417556
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417577
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417562
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:24178751   PMID:26092869   PMID:27081551   PMID:27894351   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001385665 CLINVAR
dbSNP (RS) rs1561376123 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CPLANE1 CLINVAR
OMIM 614571 CLINVAR