Variant #0000171965 (NC_000023.10:g.154001418T>C, DKC1(NM_001363.3):c.1049T>C)

Individual ID 00105895
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.154001418T>C
DNA change (hg38) g.154773143T>C
Published as -
ISCN -
DB-ID DKC1_000017 See all 2 reported entries
Variant remarks not in 100 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 11 c.1049T>C r.(?) p.(Met350Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106367 DNA SSCA;SEQ - - DKC1 1 Johan den Dunnen