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
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