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 |

Variant on transcripts
Screenings
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