RGD:9681777 Rat Genome Database

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Variant: RGD:9681777 -  Homo sapiens

RGD ID: 9681777
RS ID: rs606231260
ClinVar ID: CV167375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPLANE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 37,201,912
GRCh38 5 37,201,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000005.10:g.37201810T>C
NC_000005.9:g.37201912T>C
NM_023073.3:c.3290-2A>G
NG_032772.2:g.52619A>G
More... 		05/04/2022 splice acceptor variant pathogenic neonatal/infancy <1 / 1 000 000 Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation; Joubert syndrome with orofacialdigital anomalies; OFDS VI; Oral-facial-digital syndrome type 6; Orofaciodigital syndrome VI; POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION; VARADI SYNDROME; Varadi-Papp syndrome; Y-shaped central metacarpal and cerebellar defect
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPLANE1
Accession:XM_017009766
Location:5UTRS;INTRON

Gene Symbol:CPLANE1
Accession:XM_024446183
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417545
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417544
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417550
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_023073
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417575
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417558
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417579
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417557
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417556
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514085
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417559
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417543
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417576
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417547
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514088
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417560
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417570
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417567
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417542
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417548
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417577
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514090
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514087
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_017009761
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417568
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417561
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417578
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417572
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417553
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248350
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248346
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_006714491
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417569
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248349
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248347
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417573
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417571
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417566
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417564
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417549
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417541
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417551
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417554
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514086
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_001384732
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417562
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417563
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417552
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24178751  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144859 CLINVAR
dbSNP (RS) rs606231260 CLINVAR
MedGen C2745997 CLINVAR
NCBI Gene C5orf42 CLINVAR
OMIM 277170 CLINVAR
  614571 CLINVAR
OMIM Allele 614571.0009 CLINVAR