Variant #0000700505 (NC_000006.11:g.118880205T>A, PLN(NM_002667.3):c.121T>A)

Individual ID 00316717
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.118880205T>A
DNA change (hg38) g.118559042T>A
Published as -
ISCN -
DB-ID PLN_000058
Variant remarks -
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1535 cases
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 2020-11-03 19:57:35 +01:00 (CET)
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.121T>A r.(?) p.(Cys41Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317899 DNA SEQ;SEQ-NG - cardiomyopathy gene panel PLN 1 Johan den Dunnen