Variant #0000088285 (NC_000002.11:g.179510873TA[21_23], NM_001267550.1:c.40298-116TA[21_23] (TTN))

Individual ID 00057968
Chromosome 2
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179510873TA[21_23]
DNA change (hg38) g.178646146TA[21_23]
Published as -
ISCN -
DB-ID TTN_006068
Variant remarks sequence comparison
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2006-02-10 11:16:43 +01:00 (CET)
Date last edited 2020-05-03 17:32:09 +02:00 (CEST)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTN NM_001267550.1 -/. 217i c.40298-116TA[21_23] r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057931 DNA SEQ - - TTN 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.