RGD:26890540 Rat Genome Database

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Variant: RGD:26890540 -  Homo sapiens

RGD ID: 26890540
RS ID: rs749145719
ClinVar ID: CV841836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  LOC127828028  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 76,452,163
GRCh38 14 75,985,820
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011715.1:g.930G>T
NP_001096034.1:p.Arg12Ser
NP_001242924.1:p.Arg12Ser
NP_443105.2:p.Arg12Ser
More...
12/20/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IFT43
Accession:NM_052873
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELSYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASNGTQTGKQQ
LDLNACYHKTHHRDLGLASLEEADIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLK
LLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001102564
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELSYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKV
LAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001255995
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELSYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEEYVSSILILMVSYVDLGQQCSLGGHDLFHLC*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001059413 CLINVAR
dbSNP (RS) rs749145719 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR