Genomic variant #0000242633

Individual ID 00105830
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.154005148G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID DKC1_000064 See all 2 reported entries
Variant remarks -
Reference PubMed: Knight 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 11/100 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.07076 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 -/. 15 c.*6G>A - r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106302 DNA SEQ - - DKC1 2 SIB - Livia Famiglietti