Variant #0000499239 (NC_000003.11:g.129195306C>T, IFT122(NM_052985.2):c.1118C>T)

Individual ID 00245402
Chromosome 3
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.129195306C>T
DNA change (hg38) g.129476463C>T
Published as c.C1118T, p.S373F
ISCN -
DB-ID IFT122_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Walczak-Sztulpa 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner LOVD
Database submission license No license selected
Created by Jacopo Celli
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFT122 NM_052985.2 +/? 11 c.1118C>T r.(?) p.(Ser373Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246514 DNA SEQ - - IFT122 1 LOVD