ClinVar

NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)

Gene:

HFE:homeostatic iron regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26092913 (on Assembly GRCh38)
• Chr6: 26093141 (on Assembly GRCh37)

Preferred name:

NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)

HGVS:

• NC_000006.12:g.26092913G>A
• NG_008720.2:g.10633G>A
• NM_000410.4:c.845G>AMANE SELECT
• NM_001300749.3:c.845G>A
• NM_001384164.1:c.845G>A
• NM_001406751.1:c.836G>A
• NM_001406752.1:c.581G>A
• NM_139003.3:c.527G>A
• NM_139004.3:c.569G>A
• NM_139006.3:c.803G>A
• NM_139007.3:c.581G>A
• NM_139008.3:c.539G>A
• NM_139009.3:c.776G>A
• NM_139010.3:c.305G>A
• NM_139011.3:c.77-206G>A
• NP_000401.1:p.Cys282Tyr
• NP_000401.1:p.Cys282Tyr
• NP_001287678.1:p.Cys282Tyr
• NP_001287678.1:p.Cys282Tyr
• NP_001371093.1:p.Cys282Tyr
• NP_001393680.1:p.Cys279Tyr
• NP_001393681.1:p.Cys194Tyr
• NP_620572.1:p.Cys176Tyr
• NP_620573.1:p.Cys190Tyr
• NP_620575.1:p.Cys268Tyr
• NP_620576.1:p.Cys194Tyr
• NP_620577.1:p.Cys180Tyr
• NP_620578.1:p.Cys259Tyr
• NP_620579.1:p.Cys102Tyr
• LRG_748t1:c.845G>A
• LRG_748:g.10633G>A
• LRG_748p1:p.Cys282Tyr
• NC_000006.11:g.26093141G>A
• NG_008720.1:p.Cys282Tyr
• NM_000410.3:c.845G>A
• NM_000410.3:c.845G>A
• NM_000410.4:c.845G>A
• NM_001300749.2:c.845G>A
• Q30201:p.Cys282Tyr
• c.845G>A(C282Y)

This HGVS expression did not pass validation

Protein change:

C102Y; Cys282Tyr

Links:

Genetic Testing Registry (GTR): GTR000021464; Genetic Testing Registry (GTR): GTR000509340; Genetic Testing Registry (GTR): GTR000558915; UniProtKB: Q30201#VAR_004398; OMIM: 613609.0001; dbSNP: rs1800562

NCBI 1000 Genomes Browser:

rs1800562

Molecular consequence:

• NM_139011.3:c.77-206G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000410.4:c.845G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300749.3:c.845G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384164.1:c.845G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406751.1:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406752.1:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139003.3:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139004.3:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139006.3:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139007.3:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139008.3:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139009.3:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139010.3:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]