RGD:156083970 Rat Genome Database

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Variant: RGD:156083970 -  Homo sapiens

RGD ID: 156083970
ClinVar ID: CV2138390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT80  TRIM59-IFT80  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 160,018,847
GRCh38 3 160,301,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_022932.2:g.103166C>A
NG_022932.1:g.103474C>A
NC_000003.12:g.160301059G>T
NC_000003.11:g.160018847G>T
More... 		07/05/2022 intron variant likely benign Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune syndrome; Jeune's syndrome; Short-rib thoracic dysplasia; Thoracic pelvic phalangeal dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT80
Accession:NM_001190242
Location:INTRON

Gene Symbol:IFT80
Accession:NM_001190241
Location:INTRON

Gene Symbol:IFT80
Accession:NM_020800
Location:INTRON

Gene Symbol:TRIM59-IFT80
Accession:NR_148403
Location:INTRON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148401
Location:INTRON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148402
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002979359 CLINVAR
MedGen C0265275 CLINVAR
NCBI Gene AC079594.1 CLINVAR
  IFT80 CLINVAR
OMIM 611177 CLINVAR
SNOMED CT 75049004 CLINVAR