Variant #0000154059 (NC_000003.11:g.129207158_129207177delinsGCGTG, IFT122(NM_052985.2):c.2063_2082delinsGCGTG)

Individual ID 00095096
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.129207158_129207177delinsGCGTG
DNA change (hg38) g.129488315_129488334delinsGCGTG
Published as -
ISCN -
DB-ID IFT122_000009
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Karen Stals
Database submission license No license selected
Created by Karen Stals
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFT122 NM_052985.2 +?/. 17 c.2063_2082delinsGCGTG r.(?) p.(Ala688_Asp694delinsGlyVal)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095495 DNA SEQ;SEQ-NG - - - 2 Karen Stals