Variant #0000002617 (NC_000014.9:g.36663369delC, NM_006194.3:c.477delC (PAX9))

Individual ID 00000585
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.36663369delC
Published as -
Reference Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)
DB-ID PAX9_000007
dbSNP ID rs730880250
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 2021-04-20 10:03:37 +08:00 (CST)
Date last edited 2021-09-09 15:57:34 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PAX9 NM_006194.3 +/. 3 c.477delC c.477delG r.(?) p.(Tyr160Thrfs*52) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000648 DNA PCR;PAGE;SEQ PAX9 1 Nur Aisyah Athirah