RGD:9681775 Rat Genome Database

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Variant: RGD:9681775 -  Homo sapiens

RGD ID: 9681775
RS ID: rs606231258
ClinVar ID: CV167373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPLANE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,205,557
GRCh38 5 37,205,455
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
NM_023073.3:c.3150-1G>T
NC_000005.10:g.37205455C>A
NC_000005.9:g.37205557C>A
NG_032772.3:g.48921G>T
More... 		07/14/2023 splice acceptor variant pathogenic|not provided neonatal/infancy <1 / 1 000 000 Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation; Joubert syndrome with orofacialdigital anomalies; none provided; 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_047417570
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417549
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417554
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_006714491
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514088
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417564
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417578
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514090
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417575
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514087
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417568
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417563
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417567
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417550
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417559
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417558
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417576
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_017009761
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417572
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417573
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417557
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417543
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248346
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514086
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_011514085
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_024446183
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417566
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417552
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_001384732
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417547
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248349
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417541
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417551
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417560
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417561
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417553
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417569
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248350
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_017009766
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417545
Location:INTRON

Gene Symbol:CPLANE1
Accession:NM_023073
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_005248347
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417571
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417548
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417579
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417562
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417542
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417556
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417544
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417577
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24178751  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144857 CLINVAR
  RCV003314566 CLINVAR
dbSNP (RS) rs606231258 CLINVAR
MedGen C2745997 CLINVAR
  CN517202 CLINVAR
NCBI Gene C5orf42 CLINVAR
OMIM 277170 CLINVAR
  614571 CLINVAR
OMIM Allele 614571.0007 CLINVAR