Variant #0000171945 (NC_000023.10:g.153999067C>G, DKC1(NM_001363.3):c.949C>G)

Individual ID 00105875
Chromosome X
Allele Parent #1
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.153999067C>G
DNA change (hg38) g.154770792C>G
Published as -
ISCN -
DB-ID DKC1_000055
Variant remarks data copied from the Telomerase database
Reference PubMed: Du 2009
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 +/. 10 c.949C>G r.(?) p.(Leu317Val) PUA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106347 DNA SEQ - - DKC1 1 Johan den Dunnen