RGD:8568959 Rat Genome Database

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Variant: RGD:8568959 -  Homo sapiens

RGD ID: 8568959
RS ID: rs376586707
ClinVar ID: CV40342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT140  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,607,935
GRCh38 16 1,557,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_032783.1:g.59175G>T
NC_000016.10:g.1557934C>A
NC_000016.9:g.1607935C>A
NM_014714.4:c.2399+1G>T
More... 		11/11/2021 splice donor variant|splice-5 pathogenic <1 / 1 000 000 Conorenal syndrome; none provided; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Retinitis pigmentosa 80; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IFT140
Accession:XM_047434966
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434975
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434976
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434973
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434977
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434965
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255725
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720992
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434969
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720991
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434967
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522771
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434970
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434971
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434978
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522767
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434974
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434979
Location:INTRON

Gene Symbol:IFT140
Accession:NM_014714
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434968
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255726
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720990
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522772
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522769
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434980
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434972
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22503633   PMID:23418020   PMID:24009529   PMID:25741868   PMID:26216056   PMID:26968735   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024360 CLINVAR
  RCV000515584 CLINVAR
  RCV001075306 CLINVAR
  RCV001536095 CLINVAR
  RCV001818178 CLINVAR
  RCV003924859 CLINVAR
dbSNP (RS) rs376586707 CLINVAR
MedGen C0854723 CLINVAR
  C1849437 CLINVAR
  C3661900 CLINVAR
  C4540439 CLINVAR
NCBI Gene IFT140 CLINVAR
OMIM 266920 CLINVAR
  614620 CLINVAR
  617781 CLINVAR
OMIM Allele 614620.0002 CLINVAR
SNOMED CT 254092004 CLINVAR
  314407005 CLINVAR