Variant #0000667525 (NC_000023.10:g.53279706_53279707del, NM_001111125.1:c.2052_2053del (IQSEC2))

Individual ID 00303002
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.53279706_53279707del
DNA change (hg38) g.53250524_53250525del
Published as -
ISCN -
DB-ID IQSEC2_000103 See all 2 reported entries
Variant remarks -
Reference PubMed: Helbig 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-05 14:08:27 +02:00 (CEST)
Date last edited 2020-07-20 09:41:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IQSEC2 NM_001111125.1 +/. - c.2052_2053del r.(?) p.(Cys684*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304127 DNA SEQ-NG - WES IQSEC2 1 Johan den Dunnen


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