RGD:126732479 Rat Genome Database

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Variant: RGD:126732479 -  Homo sapiens

RGD ID: 126732479
RS ID: rs1482369679
ClinVar ID: CV1011248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 76,549,618
GRCh38 14 76,083,275
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_443105.2:p.His170Tyr
NM_001102564.3:c.493C>T
NM_052873.3:c.508C>T
NG_031957.1:g.102523C>T
More... 		02/14/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IFT43
Accession:NM_052873
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASNGTQTGKQQ
LDLNACYHKTHHRDLGLASLEEADIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLK
LLTKVLAPEYEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001102564
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKV
LAPEYEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

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

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

Gene Symbol:IFT43
Accession:NM_001255995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001313225 CLINVAR
dbSNP (RS) rs1482369679 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR