View transcript #00003317

Transcript name transcript variant b
Gene name HFE2 (hemochromatosis type 2 (juvenile))
Chromosome 1
Transcript - NCBI ID NM_145277.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_660320.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
?/? c.620G>T p.(Gly207Val) missense_variant - 3/3 probably_damaging(1) r.(?) deleterious(0)
?/? c.624C>A p.(Cys208*) stop_gained - 3/3 - r.(?) -
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