Variant #0000000369 (NC_000006.11:g.26093141G>A, HFE(NM_000410.3):c.845G>A)

Individual ID 00000369
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.26093141G>A
Reference Sutedja NA1, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.(2007)
DB-ID HFE_000001 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.03316 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
HFE NM_000410.3 ./. 4 c.845G>A r.(?) p.(Cys282Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000369 ? ? HFE 1 Y Yang