Variant #0000171942 (NC_000023.10:g.153997508A>C, DKC1(NM_001363.3):c.838A>C)

Individual ID 00105872
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.153997508A>C
DNA change (hg38) g.154769233A>C
Published as -
ISCN -
DB-ID DKC1_000035 See all 4 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) 0.00028 View details
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 +/. 9 c.838A>C r.(?) p.(Ser280Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106344 DNA SEQ - - DKC1 1 Johan den Dunnen