Variant #0000574980 (NC_000023.10:g.153993762A>G, DKC1(NM_001363.3):c.128A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153993762A>G
DNA change (hg38) g.154765487A>G
Published as DKC1(NM_001288747.1):c.128A>G (p.K43R)
ISCN -
DB-ID DKC1_000084
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DKC1 NM_001363.3 ?/. - c.128A>G r.(?) p.(Lys43Arg) -