Variant #0000318012 (NC_000017.10:g.15930765C>T, TTC19(NM_017775.3):c.1072C>T)

Chromosome 17
Allele Unknown
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.15930765C>T
DNA change (hg38) g.16027451C>T
Published as TTC19(NM_001271420.1):c.751C>T (p.Q251*)
ISCN -
DB-ID TTC19_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 ?/. - c.-27857G>A r.(?) p.(=)
NCOR1 NM_006311.3 ?/. - c.*4845G>A r.(=) p.(=)
TTC19 NM_017775.3 ?/. - c.1072C>T r.(?) p.(Gln358Ter)