Variant #0000242640 (NC_000023.10:g.154001427C>T, DKC1(NM_001363.3):c.1058C>T)

Individual ID 00148461
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.154001427C>T
DNA change (hg38) g.154773152C>T
Published as -
ISCN -
DB-ID DKC1_000003 See all 17 reported entries
Variant remarks -
Reference PubMed: Knight 1999
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.1058C>T r.(?) p.(Ala353Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149317 DNA SEQ - - DKC1 1 Johan den Dunnen