RGD:38488207 Rat Genome Database

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Variant: RGD:38488207 -  Homo sapiens

RGD ID: 38488207
RS ID: rs769650753
ClinVar ID: CV941113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL133297.2  IFT140  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 1,634,427
GRCh38 16 1,584,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014714.4:c.1156-6A>G
NG_032783.1:g.32683A>G
NC_000016.10:g.1584426T>C
NC_000016.9:g.1634427T>C
More... 		08/06/2019 intron variant uncertain significance Conorenal syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT140
Accession:XM_047434971
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720991
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720990
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434969
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434979
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434968
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434965
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434975
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255725
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434966
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434974
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434973
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255726
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522771
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434972
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522772
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434978
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434977
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434970
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434980
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434976
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522767
Location:INTRON

Gene Symbol:IFT140
Accession:NM_014714
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434967
Location:INTRON

Gene Symbol:IFT140
Accession:XM_006720992
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522769
Location:INTRON

Gene Symbol:AL133297.2
Accession:NR_135176
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001221110 CLINVAR
dbSNP (RS) rs769650753 CLINVAR
MedGen C1849437 CLINVAR
NCBI Gene AL133297.2 CLINVAR
  IFT140 CLINVAR
OMIM 266920 CLINVAR
  614620 CLINVAR
SNOMED CT 254092004 CLINVAR