Variant #0000002993 (NC_000023.11:g.15397C>T, DKC1(NM_001363.5):c.1058C>T)

Individual ID 00000745
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15397C>T
Published as -
Reference L A Chong et al.(2009)
DB-ID DKC1_000001 See all 2 reported entries
dbSNP ID rs121912288
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
DKC1 NM_001363.5 +/. - c.1058C>T - r.(?) p.(Ala353Val) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000839 DNA DHPLC;PCRdig;SEQ DKC1 1 Nur Aisyah Athirah