Variant #0000640143 (NC_000006.11:g.24357857_24357858del, DCDC2(NM_016356.3):c.121_122del)

Individual ID 00283251
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.24357857_24357858del
DNA change (hg38) g.24357629_24357630del
Published as -
ISCN -
DB-ID DCDC2_000007
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Schueler 2015, PubMed: Schueler 2015
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DCDC2 NM_016356.3 +/+ 1 c.121_122del r.(?) p.(Ser42Glnfs*72)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284401 DNA ? - - DCDC2 1 Global Variome, with Curator vacancy