Variant #0000171899 (NC_000023.10:g.153993747T>C, DKC1(NM_001363.3):c.113T>C)

Individual ID 00105829
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.153993747T>C
DNA change (hg38) g.154765472T>C
Published as -
ISCN -
DB-ID DKC1_000023
Variant remarks submitted through SIB; ExPASy_015674
Reference {PMIDCossu 2002:12437656}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner SIB - Livia Famiglietti
Database submission license No license selected
Created by SIB - Livia Famiglietti
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 3 c.113T>C r.(?) p.(Ile38Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106301 DNA SEQ - - DKC1 1 SIB - Livia Famiglietti