Genomic variant #0000171939

Individual ID 00105869
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.153994224_153994225delinsTA
DNA change (hg38) g.154765949_154765950delinsTA
Published as c.214_215CT>TA
ISCN -
DB-ID DKC1_000010 See all 2 reported entries
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 +/. 4 c.214_215delinsTA r.(?) p.(Leu72Tyr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106341 DNA SEQ - - DKC1 1 Johan den Dunnen