Variant #0000001243 (NC_000014.9:g.36663354del, NM_006194.3:c.462del (PAX9))

Individual ID 00000244
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.36663354del
Published as c.462delT
Reference -
DB-ID PAX9_000004
dbSNP ID rs1554128476
Frequency 1/4
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-13 12:54:08 +08:00 (CST)
Date last edited 2021-09-09 15:53:49 +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.462del - r.(?) p.(Tyr156Thrfs*56) - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000259 DNA PCR;SEQ PAX9 4 Nuur Athirah Binti Mohd Daud