Variant #0000649496 (NC_000017.10:g.15903169C>T, TTC19(NM_017775.3):c.7C>T)

Individual ID 00291639
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15903169C>T
DNA change (hg38) g.15999855C>T
Published as -
ISCN -
DB-ID TTC19_000019
Variant remarks 4 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs756830714
Origin Germline
Segregation -
Frequency 4/2772 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Mohammed Faruq
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTC19 NM_017775.3 +?/. - c.7C>T r.(?) p.(Arg3Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292807 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq