Variant #0000689688 (NC_000006.11:g.24278344T>C, DCDC2(NM_016356.3):c.855A>G)

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.24278344T>C
DNA change (hg38) -
Published as DCDC2(NM_016356.4):c.855A>G (p.S285=), DCDC2(NM_016356.5):c.855A>G (p.S285=)
ISCN -
DB-ID KAAG1_000004 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00089 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     
DCDC2 NM_016356.3 -?/. - c.855A>G r.(?) p.(Ser285=)
KAAG1 NM_181337.3 -?/. - c.-79524T>C r.(?) p.(=)