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
Date created 2017-01-06 11:48:29 +01:00 (CET)
Date last edited 2017-01-08 11:55:22 +01:00 (CET)
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