RGD:150421126 Rat Genome Database

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Variant: RGD:150421126 -  Homo sapiens

RGD ID: 150421126
RS ID: rs78384178
ClinVar ID: CV1181195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 76,549,091
GRCh38 14 76,082,748
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001102564.3:c.444+56C>T
NM_052873.3:c.459+56C>T
NG_031957.1:g.101996C>T
NC_000014.9:g.76082748C>T
More... 		12/31/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IFT43
Accession:NM_001255995
Location:INTRON

Gene Symbol:IFT43
Accession:NM_001102564
Location:INTRON

Gene Symbol:IFT43
Accession:NM_052873
Location:INTRON

Gene Symbol:IFT43
Accession:NR_045665
Location:INTRON;NON-CODING

Gene Symbol:IFT43
Accession:NR_045664
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001551871 CLINVAR
dbSNP (RS) rs78384178 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR