RGD:11654939 Rat Genome Database

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Variant: RGD:11654939 -  Homo sapiens

RGD ID: 11654939
RS ID: rs774016809
ClinVar ID: CV297478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPLANE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,227,918
GRCh38 5 37,227,816
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.37227816G>A
NC_000005.9:g.37227918G>A
NP_075561.3:p.Pro375Ser
NP_075561.3:p.Pro375Ser
More... 		06/15/2023 missense variant uncertain significance antenatal 1-9 / 100 000 Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation; Joubert syndrome 17; 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_047417551
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417543
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_011514090
Location:EXON

Gene Symbol:CPLANE1
Accession:NM_001384732
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417573
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417552
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417578
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_005248346
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417566
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417553
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417579
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_024446183
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417562
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417556
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_005248349
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_006714491
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417570
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_005248350
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417560
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417557
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417564
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417542
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417554
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_017009761
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417559
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417567
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417569
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417550
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_005248347
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_011514086
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417571
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_011514087
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417575
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417576
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_011514088
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_011514085
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417544
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417547
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417558
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417563
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417541
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417545
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417572
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417568
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417577
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417561
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417549
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_047417548
Location:EXON

Gene Symbol:CPLANE1
Accession:NM_023073
Location:EXON

Gene Symbol:CPLANE1
Accession:XM_017009766
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000322008 CLINVAR
  RCV001850869 CLINVAR
  RCV002487549 CLINVAR
dbSNP (RS) rs774016809 CLINVAR
MedGen C2745997 CLINVAR
  C3553264 CLINVAR
  CN517202 CLINVAR
NCBI Gene C5orf42 CLINVAR
OMIM 277170 CLINVAR
  614571 CLINVAR
  614615 CLINVAR