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
Date created 2010-07-22 11:33:16 +02:00 (CEST)
Date last edited N/A
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