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
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