Genomic variant #0000171913

Individual ID 00105843
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.154001418T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID DKC1_000017 See all 2 reported entries
Variant remarks submitted through SIB; ExPASy_010083
Reference PubMed: Knight 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner SIB - Livia Famiglietti




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 +/. 11 c.1049T>C - r.(?) p.(Met350Thr) PUA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106315 DNA SEQ - - DKC1 1 SIB - Livia Famiglietti