Variant #0000560360 (NC_000017.10:g.15907147del, TTC19(NM_017775.3):c.465del)

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.15907147del
DNA change (hg38) g.16003833del
Published as -
ISCN -
DB-ID TTC19_000016
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_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 +/. - c.-4239del r.(?) p.(=)
TTC19 NM_017775.3 +/. - c.465del r.(?) p.(Glu156AsnfsTer8)