Variant #0000095562 (NC_000006.11:g.7542149dup, DSP(NM_004415.2):c.1dup)

Individual ID 00064169
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.7542149dup
DNA change (hg38) g.7541916dup
Published as NM_001008844:.1_2insA (M1fs)
ISCN -
DB-ID DSP_000001 See all 18 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 2020-06-18 13:04:38 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DSP NM_004415.2 ?/. 1 c.1dup r.(?) p.(Met1?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064302 DNA SEQ - - TTN 5 Johan den Dunnen