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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTC19 NM_017775.3 +/. 5 c.880C>T r.(?) p.(Gln294*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117991 DNA SEQ; PCR - - TTC19 1 Johan den Dunnen