RGD:11658083 Rat Genome Database

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Variant: RGD:11658083 -  Homo sapiens

RGD ID: 11658083
RS ID: rs115541718
ClinVar ID: CV304024
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPLANE1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 37,107,308
GRCh38 5 37,107,206
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.37107206A>G
NC_000005.9:g.37107308A>G
NM_001384732.1:c.*396T>C
NM_023073.4:c.*396T>C
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance antenatal 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPLANE1
Accession:NM_023073
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_005248350
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_005248346
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417564
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417558
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417559
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417563
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_011514090
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417566
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417542
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417550
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_017009766
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417560
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417557
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417553
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417556
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417570
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417576
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_005248347
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_011514087
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417547
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_011514088
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_011514086
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417569
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_024446183
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:NM_001384732
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417541
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417552
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417551
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417543
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417548
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_017009761
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_005248349
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_006714491
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417567
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417554
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_011514085
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417549
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417545
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417544
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417578
Location:3UTRS;EXON

Gene Symbol:CPLANE1
Accession:XM_047417561
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417577
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417571
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417575
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417568
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417573
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417572
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417562
Location:INTRON

Gene Symbol:CPLANE1
Accession:XM_047417579
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346431 CLINVAR
dbSNP (RS) rs115541718 CLINVAR
MedGen C3553264 CLINVAR
NCBI Gene C5orf42 CLINVAR
OMIM 614571 CLINVAR
  614615 CLINVAR