Variant #0000000489 (NC_000023.10:g.595416dup, NM_000451.3:c.341dup (SHOX))

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.595416dup
Reference -
DB-ID SHOX_000006
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2024-05-07 12:09:50 +00:00 (UTC)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHOX NM_000451.3 +/+ 3 c.341dup r.(?) p.(Leu115Alafs*67)