Variant #0000649495 (NC_000017.10:g.15903121G>T, TTC19(NM_017775.3):c.-42G>T)

Individual ID 00291638
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15903121G>T
DNA change (hg38) g.15999807G>T
Published as -
ISCN -
DB-ID TTC19_000018
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs769078093
Origin Germline
Segregation -
Frequency 1/2785 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTC19 NM_017775.3 +/. - c.-42G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292806 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq