Variant #0000312107 (NC_000017.10:g.15905225T>C, TTC19(NM_017775.3):c.313-4T>C)

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.15905225T>C
DNA change (hg38) g.16001911T>C
Published as TTC19(NM_001271420.1):c.-9-4T>C
ISCN -
DB-ID TTC19_000008 See all 2 reported entries
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) 0.00021 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 -?/. - c.-2317A>G r.(?) p.(=)
TTC19 NM_017775.3 -?/. - c.313-4T>C r.spl? p.?