Variant #0000616357 (NC_000017.10:g.15903249C>T, TTC19(NM_017775.3):c.87C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15903249C>T
DNA change (hg38) g.15999935C>T
Published as TTC19(NM_017775.3):c.87C>T (p.L29=)
ISCN -
DB-ID TTC19_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 -?/. - c.-341G>A r.(?) p.(=)
TTC19 NM_017775.3 -?/. - c.87C>T r.(?) p.(Leu29=)