View all transcript variants in gene HFE2

Information The variants shown are described using the NM_145277.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? c.620G>T p.(Gly207Val) missense_variant - 3/3 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.145416614G>T - 5.440 - HFE2_000001 MSCV_0000077 rs74315323 - ; 19796184;12891378;14647275;14982873;15461631;15811010 - - -
?/? c.624C>A p.(Cys208*) stop_gained - 3/3 - r.(?) - 1 Unknown subst g.145416618C>A - 2.380 - HFE2_000002 MSCV_0000078 rs121434374 - ; 15461631;15138164 - - -
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