rs375941259 Rat Genome Database

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Variant: rs375941259 -  Homo sapiens

RGD ID: 13435871
RS ID: rs375941259
ClinVar ID: CV433630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT80  TRIM59-IFT80  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 159,986,224
GRCh38 3 160,268,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_022932.1:g.136097C>T
NC_000003.12:g.160268436G>A
NC_000003.11:g.159986224G>A
NP_065851.1:p.Arg734Ter
More... 		09/10/2019 non-coding transcript variant|nonsense likely pathogenic|uncertain significance AllHighlyPenetrant; 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_001190242
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 597
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELAVKYKTHVDTVLAYRQKFLETFGKQETNK*YLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:IFT80
Accession:NM_001190241
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 597
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELAVKYKTHVDTVLAYRQKFLETFGKQETNK*YLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:IFT80
Accession:NM_020800
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 734
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLGVKKQTQAESF
VLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSE
KVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVEQHWEWKNFQVTLTKRRAMQV
RNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYE
GRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKN
PHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAI
GEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQ
KFLETFGKQETNK*YLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP*

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 RCV000506151 CLINVAR
  RCV001230221 CLINVAR
dbSNP (RS) rs375941259 CLINVAR
MedGen C0265275 CLINVAR
  CN169374 CLINVAR
NCBI Gene 100174949 CLINVAR
  IFT80 CLINVAR
OMIM 611177 CLINVAR
SNOMED CT 75049004 CLINVAR