Variant #0000002589 (NC_000002.12:g.71570719G>A, NM_003494.3:c.3206G>A (DYSF))

Individual ID 00000579
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.71570719G>A
Published as -
Reference R.Y. Looi et al.(2010)(10.1016/j.nmd.2010.07.036)
DB-ID DYSF_000005
dbSNP ID rs150877497
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-11 11:33:21 +08:00 (CST)
Date last edited 2021-08-01 14:08:51 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
DYSF NM_003494.3 +/. - c.3206G>A - r.(?) p.(Trp1069*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000638 DNA IHC;RT-PCR;SEQ;Western DYSF 6 Nur Aisyah Athirah