Variant #0000729900 (NC_000019.9:g.39993644_39993648dup, NM_016941.3:c.599_603dup (DLL3))

Individual ID 00331399
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.39993644_39993648dup
DNA change (hg38) g.39503004_39503008dup
Published as NM_016941.3:c.599_603dup:p.(Pro202Alafs*41)
ISCN -
DB-ID DLL3_000029
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-11 15:29:38 +01:00 (CET)
Date last edited 2021-02-11 15:37:40 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DLL3 NM_016941.3 +/. - c.599_603dup r.(?) p.(Pro202Alafs*41)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332618 DNA SEQ;SEQ-NG - WES DLL3 1 LOVD


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