Variant #0000193958 (NC_000017.10:g.15930712T>G, TTC19(NM_017775.3):c.1019T>G)

Individual ID 00117529
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTC19 NM_017775.3 +/. 7 c.1019T>G r.(?) p.(Leu340*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117992 DNA SEQ; PCR - - TTC19 1 Johan den Dunnen