Variant #0000255369 (NC_000023.10:g.153997508A>C, DKC1(NM_001363.3):c.838A>C)

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.153997508A>C
DNA change (hg38) g.154769233A>C
Published as DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001363.3):c.838A>C (p.S280R)
ISCN -
DB-ID DKC1_000035 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00028 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.838A>C r.(?) p.(Ser280Arg) -