RGD:13467134 Rat Genome Database

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Variant: RGD:13467134 -  Homo sapiens

RGD ID: 13467134
RS ID: rs144776609
ClinVar ID: CV440214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  LOC127828028  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 76,452,137
GRCh38 14 75,985,794
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.5042A>G
NC_000014.8:g.76452137A>G
NP_443105.2:p.Asp3Gly
NG_011715.1:g.956T>C
More... 		06/01/2017 missense variant conflicting interpretations of pathogenicity|uncertain significance 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:IFT43
Accession:NM_052873
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASNGTQTGKQQ
LDLNACYHKTHHRDLGLASLEEADIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLK
LLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001102564
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
IEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKV
LAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001255995
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEE
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:29068549  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515914 CLINVAR
dbSNP (RS) rs144776609 CLINVAR
MedGen C0265275 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR
SNOMED CT 75049004 CLINVAR