Variant #0000649497 (NC_000017.10:g.15931171C>T, TTC19(NM_017775.3):c.*335C>T)

Individual ID 00291640
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15931171C>T
DNA change (hg38) g.16027857C>T
Published as -
ISCN -
DB-ID TTC19_000020
Variant remarks 6 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs117087989
Origin Germline
Segregation -
Frequency 6/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00672 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.*335C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292808 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq