Variant #0000729812 (NC_000011.9:g.46724694_46724705del, NM_024741.2:c.553_564del (ZNF408))

Individual ID 00331311
Chromosome 11
Allele Parent #1
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.46724694_46724705del
DNA change (hg38) g.46703144_46703155del
Published as 552_563del
ISCN -
DB-ID ZNF408_000045
Variant remarks variant found in unaffected members
Reference PubMed: Su 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
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 2021-02-11 12:10:29 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF408 NM_024741.2 ?/. - c.553_564del r.(?) p.(Leu185_Glu188del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332531 DNA SEQ-NG - - - 2 Johan den Dunnen


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