Variant #0000171914 (NC_000023.10:g.154001419G>A, DKC1(NM_001363.3):c.1050G>A)

Individual ID 00105844
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.154001419G>A
DNA change (hg38) g.154773144G>A
Published as -
ISCN -
DB-ID DKC1_000015
Variant remarks submitted through SIB; ExPASy_010082
Reference PubMed: Knight 1999
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 +/. 11 c.1050G>A r.(?) p.(Met350Ile) PUA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106316 DNA SEQ - - DKC1 1 SIB - Livia Famiglietti