Variant #0000003047 (NC_000006.12:g.8677A>T, NM_001300749.2:c.193A>T (HFE))

Individual ID 00000777
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8677A>T
Published as -
Reference Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf
DB-ID HFE_000002 See all 3 reported entries
dbSNP ID rs1800730
Frequency 1/77
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 11:31:31 +08:00 (CST)
Date last edited 2021-08-01 13:24:28 +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.193A>T S65C r.(?) p.(Ser65Cys) Pathogenic



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000871 DNA PCRdig HFE 2 Nur Aisyah Athirah