Variant #0000193960 (NC_000017.10:g.15930712T>G, TTC19(NM_017775.3):c.1019T>G)
Individual ID |
00117531 |
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.15930712T>G |
DNA change (hg38) |
g.16027398T>G |
Published as |
656T>G; L219X |
ISCN |
- |
DB-ID |
TTC19_000002 See all 3 reported entries |
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) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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