Variant #0000002229 (NC_000011.10:g.31793689delG, NM_000280.4:c.879delC (PAX6))

Individual ID 00000464
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.31793689delG
Published as -
Reference P C Lee et al.(2014)
DB-ID PAX6_000001
dbSNP ID rs1131692315
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 2021-03-01 15:30:38 +08:00 (CST)
Date last edited 2021-09-09 12:02:15 +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     
PAX6 NM_000280.4 ?/. - c.879delC - r.(?) p.(Ser294Valfs*71) -
PAX6 NM_001127612.1 ?/. - c.879delC - r.(?) p.(Ser294Valfs*71) -
PAX6 NM_001258462.1 ?/. - c.921delC - r.(?) p.(Ser308Valfs*71) -
PAX6 NM_001258463.1 ?/. - c.921delC - r.(?) p.(Ser308Valfs*71) -
PAX6 NM_001258464.1 ?/. - c.879delC - r.(?) p.(Ser294Valfs*71) -
PAX6 NM_001258465.1 ?/. - c.879delC - r.(?) p.(Ser294Valfs*71) -
PAX6 NM_001310158.1 +/. 7 c.857delG - r.(?) p.(Asn287Ilefs*92) -
PAX6 NM_001604.5 ?/. - c.921delC - r.(?) p.(Ser308Valfs*71) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000510 DNA MCA PAX6 1 Nur Aisyah Athirah