RGD:11614572 Rat Genome Database

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Variant: RGD:11614572 -  Homo sapiens

RGD ID: 11614572
RS ID: rs151137087
ClinVar ID: CV330702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 76,455,309
GRCh38 14 75,988,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031957.1:g.8214C>T
NC_000014.9:g.75988966C>T
NC_000014.8:g.76455309C>T
NP_443105.2:p.Leu46=
More... 		09/21/2020 non-coding transcript variant likely benign|uncertain significance none provided; Retinitis pigmentosa 81; Short-rib thoracic dysplasia 18 with polydactyly
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT43
Accession:NM_001102564
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKV
LAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001255995
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEEYVSSILILMVSYVDLGQQCSLGGHDLFHLC*

Gene Symbol:IFT43
Accession:NM_052873
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASNGTQTGKQQ
LDLNACYHKTHHRDLGLASLEEADIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLK
LLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906941 CLINVAR
  RCV002494987 CLINVAR
dbSNP (RS) rs151137087 CLINVAR
MedGen C3279807 CLINVAR
  C3661900 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR
  614099 CLINVAR
  617866 CLINVAR
  617871 CLINVAR