Variant #0000790004 (NC_000006.11:g.118880124_118880126del, PLN(NM_002667.3):c.40_42del)

Individual ID 00376394
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.118880124_118880126del
DNA change (hg38) g.118558961_118558963del
Published as -
ISCN -
DB-ID PLN_000020 See all 7 reported entries
Variant remarks ACMG PS3 PS4-M PM2 PM4 PP1 PP5; no genotypes reported
Reference PubMed: Nguyen 2021
ClinVar ID -
dbSNP ID -
Origin Germline
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 2021-06-22 13:15:11 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLN NM_002667.3 +/. - c.40_42del r.(?) p.(Arg14del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377599 DNA SEQ-NG - 58-gene panel PLN 1 Johan den Dunnen