Variant #0000000474 (NC_000002.11:g.179397244G>A, NM_001267550.1:c.104098C>T (TTN))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.179397244G>A
Reference -
DB-ID TTN_000007
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2024-05-03 08:40:20 +00:00 (UTC)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTN NM_001267550.1 ?/? - c.104098C>T r.(?) p.(Pro34700Ser)
TTN NM_133379.4 ?/? - c.*213068C>T r.(=) p.(=)