Variant #0000764708 (NC_000023.10:g.153993746_153993750delinsTCAAC, DKC1(NM_001363.3):c.112_116delinsTCAAC)

Individual ID 00362770
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.153993746_153993750delinsTCAAC
DNA change (hg38) g.154765471_154765475delinsTCAAC
Published as 112_116delATCAAinsTCAAC
ISCN -
DB-ID DKC1_000099
Variant remarks -
Reference PubMed: Tsangaris 2011
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 +?/. - c.112_116delinsTCAAC r.(?) p.(Ile38_Lys39delinsSerThr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363998 DNA SEQ - - DKC1 1 Johan den Dunnen