Variant #0000677702 (NC_000006.11:g.24178676C>T, DCDC2(NM_016356.3):c.1208G>A)

Chromosome 6
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.24178676C>T
DNA change (hg38) -
Published as DCDC2(NM_016356.4):c.1208G>A (p.R403H)
ISCN -
DB-ID KAAG1_000012
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) 0.00047 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     
DCDC2 NM_016356.3 ?/. - c.1208G>A r.(?) p.(Arg403His)
KAAG1 NM_181337.3 ?/. - c.-179192C>T r.(?) p.(=)