Variant #0000095620 (NC_000006.11:g.118880157C>T, PLN(NM_002667.3):c.73C>T)

Individual ID 00064187
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.118880157C>T
DNA change (hg38) g.118558994C>T
Published as NM_002667:c.C73T
ISCN -
DB-ID PLN_000024 See all 2 reported entries
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) 3.0E-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 2016-04-27 08:53:12 +02:00 (CEST)
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 ?/. 2 c.73C>T r.(?) p.(Arg25Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064320 DNA SEQ - - TTN 3 Johan den Dunnen