Variant #0000003049 (NC_000006.12:g.10633G>A, NM_001300749.2:c.845G>A (HFE))

Individual ID 00000778
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.10633G>A
Published as -
Reference Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf
DB-ID HFE_000003
dbSNP ID rs1800562
Frequency 1/48
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 2021-07-12 11:35:16 +08:00 (CST)
Date last edited 2021-08-01 13:24:39 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
HFE NM_001300749.2 +/. 4 c.845G>A C282Y r.(?) p.(Cys282Tyr) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000872 DNA PCRdig HFE 3 Nur Aisyah Athirah