Variant #0000095731 (NC_000006.11:g.118880137T>C, PLN(NM_002667.3):c.53T>C)

Individual ID 00064222
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.118880137T>C
DNA change (hg38) g.118558974T>C
Published as NM_002667:c.T53C
ISCN -
DB-ID PLN_000023
Variant remarks -
Reference PubMed: Lopes 2013, Journal: Lopes 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/223 cases HCM
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 2016-04-27 08:53:12 +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 ?/. 2 c.53T>C r.(?) p.(Ile18Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064355 DNA SEQ - - TTN 5 Johan den Dunnen