RGD:8596522 Rat Genome Database

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Variant: RGD:8596522 -  Homo sapiens

RGD ID: 8596522
RS ID: rs376595844
ClinVar ID: CV19676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT122  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 129,180,152
GRCh38 3 129,461,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_023392.1:g.26185G>A
NC_000003.12:g.129461309G>A
NC_000003.11:g.129180152G>A
NM_052985.2:c.502+5G>A
More... 		05/26/2022 intron|intron variant pathogenic|uncertain significance antenatal|neonatal/infancy <1 / 1 000 000 Levin syndrome 1; LEVIN SYNDROME I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT122
Accession:NM_001280546
Location:5UTRS;INTRON

Gene Symbol:IFT122
Accession:XM_047448552
Location:5UTRS;INTRON

Gene Symbol:IFT122
Accession:XM_047448551
Location:5UTRS;INTRON

Gene Symbol:IFT122
Accession:NM_001280545
Location:5UTRS;INTRON

Gene Symbol:IFT122
Accession:XM_006713695
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001280541
Location:INTRON

Gene Symbol:IFT122
Accession:XM_011512972
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448553
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:XM_006713691
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410811
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410813
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448546
Location:INTRON

Gene Symbol:IFT122
Accession:NM_018262
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448548
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410808
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448549
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448554
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410810
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410815
Location:INTRON

Gene Symbol:IFT122
Accession:XM_017006834
Location:INTRON

Gene Symbol:IFT122
Accession:XM_047448547
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410817
Location:INTRON

Gene Symbol:IFT122
Accession:NM_001410809
Location:INTRON

Gene Symbol:IFT122
Accession:NM_052989
Location:INTRON

Gene Symbol:IFT122
Accession:NM_052990
Location:INTRON

Gene Symbol:IFT122
Accession:NM_052985
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17022080   PMID:17576681   PMID:20493458   PMID:24027799   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004900 CLINVAR
dbSNP (RS) rs376595844 CLINVAR
MedGen C0432235 CLINVAR
NCBI Gene IFT122 CLINVAR
OMIM 218330 CLINVAR
  606045 CLINVAR
OMIM Allele 606045.0003 CLINVAR