Variant #0000003043 (NC_000006.12:g.8671C>G, NM_001300749.2:c.187C>G (HFE))

Individual ID 00000776
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8671C>G
Published as -
Reference Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf
DB-ID HFE_000001 See all 3 reported entries
dbSNP ID rs1799945
Frequency 7/97
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 11:14:23 +08:00 (CST)
Date last edited 2021-08-01 13:24:16 +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     
HFE NM_001300749.2 +/. 2 c.187C>G H63D r.(?) p.(His63Asp) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000870 DNA PCRdig HFE 2 Nur Aisyah Athirah