Variant #0000251850 (NC_000023.10:g.153997446A>C, DKC1(NM_001363.3):c.776A>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153997446A>C
DNA change (hg38) g.154769171A>C
Published as DKC1(NM_001288747.1):c.776A>C (p.H259P), DKC1(NM_001363.3):c.776A>C (p.H259P)
ISCN -
DB-ID DKC1_000070 See all 2 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) 0.00082 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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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.776A>C r.(?) p.(His259Pro) -