Variant #0000171924 (NC_000023.10:g.153991848C>G, DKC1(NM_001363.3):c.16+592C>G)

Individual ID 00105854
Chromosome X
Allele Maternal (confirmed)
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.153991848C>G
DNA change (hg38) g.154763573C>G
Published as r.16_17ins247, 16+343_589
ISCN -
DB-ID DKC1_000032
Variant remarks variant not in 80 control chromosomes
Reference PubMed: Knight 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Brenda Potrykus
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 1i c.16+592C>G r.[16_17ins16+343_16+589,=] p.[Val6Alafs*5,=] -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106326 DNA;RNA RT-PCR;SEQ - - DKC1 1 Johan den Dunnen