Variant #0000560358 (NC_000017.10:g.15903274C>A, TTC19(NM_017775.3):c.112C>A)

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.15903274C>A
DNA change (hg38) g.15999960C>A
Published as TTC19(NM_017775.3):c.112C>A (p.P38T)
ISCN -
DB-ID TTC19_000014
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 -?/. - c.-366G>T r.(?) p.(=)
TTC19 NM_017775.3 -?/. - c.112C>A r.(?) p.(Pro38Thr)