Variant #0000000473 (NC_000002.11:g.179446666C>T, NM_001267550.1:c.66430G>A (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.179446666C>T
Reference -
DB-ID TTN_000003 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00027 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 08:39:38 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTN NM_001267550.1 ?/? - c.66430G>A r.(?) p.(Ala22144Thr)
TTN NM_133379.4 ?/? - c.*163646G>A r.(=) p.(=)