Genomic variant #0000171900

Individual ID 00105830
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.153993749A>G
DNA change (hg38) g.154765474A>G
Published as -
ISCN -
DB-ID DKC1_000012
Variant remarks submitted through SIB; ExPASy_010077; de novo in mother
Reference PubMed: Knight 1999
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner 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.115A>G r.(?) p.(Lys39Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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