Variant #0000095473 (NC_000006.11:g.118880236T>C, PLN(NM_002667.3):c.152T>C)

Individual ID 00064144
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.118880236T>C
DNA change (hg38) g.118559073T>C
Published as NM_002667:c.T152C
ISCN -
DB-ID PLN_000022 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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLN NM_002667.3 ?/. 2 c.152T>C r.(?) p.(Leu51Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064277 DNA SEQ - - TTN 3 Johan den Dunnen