Variant #0001026715 (NC_000016.9:g.50826565A>T, NM_001042355.1:c.2290A>T (CYLD))

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.50826565A>T
DNA change (hg38) -
Published as CYLD(NM_015247.3):c.2299A>T (p.K767*)
ISCN -
DB-ID CYLD_000060
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) Retrieve
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYLD NM_001042355.1 +/. - c.2290A>T r.(?) p.(Lys764*)
CYLD NM_001378743.1 +/. - c.2299A>T r.(?) p.(Lys767*)


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