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) |

Variant on transcripts
Screenings
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