Variant #0000193957 (NC_000017.10:g.15929902C>T, TTC19(NM_017775.3):c.880C>T)
Individual ID |
00117528 |
Chromosome |
17 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15929902C>T |
DNA change (hg38) |
g.16026588C>T |
Published as |
517C>T;Q173X |
ISCN |
- |
DB-ID |
TTC19_000001 |
Variant remarks |
- |
Reference |
PubMed: Ghezzi 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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