Variant #0000979676 (NC_000011.9:g.61106876G>C, NM_001923.4:c.-6436C>G (DDB1))

Chromosome 11
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.61106876G>C
DNA change (hg38) -
Published as TKFC(NM_015533.4):c.455G>C (p.(Arg152Pro))
ISCN -
DB-ID CYBASC3_000005
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) 0.0001 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDB1 NM_001923.4 ?/. - c.-6436C>G r.(?) p.(=)
DAK NM_015533.3 ?/. - c.455G>C r.(?) p.(Arg152Pro)
CYBASC3 NM_153611.4 ?/. - c.*10995C>G r.(=) p.(=)


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