Variant #0000172887 (NC_000007.13:g.44323805G>A, NM_001220.4:c.85C>T (CAMK2B))

Individual ID 00106659
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.44323805G>A
DNA change (hg38) g.44284206G>A
Published as -
ISCN -
DB-ID CAMK2B_000001
Variant remarks -
Reference PubMed: Kury 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 1/20,000 trios with developmental disorders
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sébastien Küry
Database submission license No license selected
Created by Sébastien Küry
Date created 2017-07-07 14:16:43 +02:00 (CEST)
Date last edited 2024-02-03 16:38:35 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAMK2B NM_001220.4 +?/. - c.85C>T r.(?) p.(Arg29*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107130 DNA SEQ-NG blood exome sequencing - 1 Sébastien Küry


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