Genomic variant #0000171921

Individual ID 00105851
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.153991100C>G
DNA change (hg38) g.154762825C>G
Published as -
ISCN -
DB-ID DKC1_000033
Variant remarks disrupts a canonical Sp1 transcription factor binding site; not in 100 control chromosomes
Reference PubMed: Knight 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +/. 1 c.-141C>G r.(?) p.(=) 5'UTR



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106323 DNA SEQ - - DKC1 1 Johan den Dunnen