Genomic variant #0000171949

Individual ID 00105879
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.154001444G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID DKC1_000057
Variant remarks data copied from the Telomerase database
Reference PubMed: Vulliamy 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 11 c.1075G>A - r.(?) p.(Asp359Asn) PUA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106351 DNA SEQ - - DKC1 1 Johan den Dunnen