Variant #0000694127 (NC_000016.9:g.88501516delC, NM_001367624.2:c.7638del (ZNF469))

Individual ID 00311371
Chromosome 16
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.88501516delC
DNA change (hg38) g.88435108del
Published as -
ISCN -
DB-ID ZNF469_000236
Variant remarks -
Reference PubMed: Rech 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-23 12:11:16 +02:00 (CEST)
Date last edited 2024-10-17 14:16:22 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF469 NM_001367624.2 +?/+ - c.7638del r.(?) p.(Ser2547AlafsTer37)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312539 DNA SEQ-NG - - ZNF469 2 Benjamin Billiet


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