Variant #0000701380 (NC_000006.11:g.118880200T>G, PLN(NM_002667.3):c.116T>G)

Individual ID 00317592
Chromosome 6
Allele Unknown
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.118880200T>G
DNA change (hg38) g.118559037T>G
Published as -
ISCN -
DB-ID PLN_000032 See all 4 reported entries
Variant remarks -
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/632 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLN NM_002667.3 +/. - c.116T>G r.(?) p.(Leu39*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000318774 DNA SEQ;SEQ-NG - cardiomyopathy gene panel PLN 1 Johan den Dunnen