Genomic variant #0000171930

Individual ID 00105860
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.153993743_153993745del
DNA change (hg38) g.154765468_154765470del
Published as c.109_111delCTT
ISCN -
DB-ID DKC1_000063
Variant remarks data copied from the Telomerase database
Reference PubMed: Heiss 1998
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 3 c.109_111del r.(?) p.(Leu37del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106332 DNA SEQ - - DKC1 1 Johan den Dunnen