rs943067730 Rat Genome Database

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Variant: rs943067730 -  Homo sapiens

RGD ID: 26891794
RS ID: rs943067730
ClinVar ID: CV827647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT80  TRIM59-IFT80  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 159,986,308
GRCh38 3 160,268,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190242.2:c.1705G>A
NM_001190241.2:c.1705G>A
NP_001177171.1:p.Val569Ile
NR_148402.1:n.4360G>A
More... 		06/13/2022 missense variant 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:IFT80
Accession:NM_001190241
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 569
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELALKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:IFT80
Accession:NM_001190242
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 569
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELALKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:IFT80
Accession:NM_020800
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 706
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLGVKKQTQAESF
VLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSE
KVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVEQHWEWKNFQVTLTKRRAMQV
RNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYE
GRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKN
PHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAI
GEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELALKYKTHVDTVLAYRQ
KFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP*

Gene Symbol:TRIM59-IFT80
Accession:NR_148403
Location:EXON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148401
Location:EXON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148402
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001046619 CLINVAR
dbSNP (RS) rs943067730 CLINVAR
MedGen C0265275 CLINVAR
NCBI Gene 100174949 CLINVAR
  IFT80 CLINVAR
OMIM 611177 CLINVAR
SNOMED CT 75049004 CLINVAR