Variant #0000274773 (NC_000006.11:g.24357757G>T, DCDC2(NM_016356.3):c.222C>A)

Chromosome 6
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.24357757G>T
DNA change (hg38) g.24357529G>T
Published as DCDC2(NM_016356.4):c.222C>A (p.I74=)
ISCN -
DB-ID DCDC2_000005 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) 0.0003 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DCDC2 NM_016356.3 -?/. - c.222C>A r.(?) p.(Ile74=)
KAAG1 NM_181337.3 -?/. - c.-111G>T r.(?) p.(=)