Variant #0000560363 (NC_000017.10:g.15930699C>T, TTC19(NM_017775.3):c.1006C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15930699C>T
DNA change (hg38) g.16027385C>T
Published as TTC19(NM_001271420.1):c.685C>T (p.Q229*)
ISCN -
DB-ID NCOR1_000006
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) 0.00022 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 +/. - c.-27791G>A r.(?) p.(=)
NCOR1 NM_006311.3 +/. - c.*4911G>A r.(=) p.(=)
TTC19 NM_017775.3 +/. - c.1006C>T r.(?) p.(Gln336Ter)