ClinVar

NM_000410.4(HFE):c.*988G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26095214 (on Assembly GRCh38)
• Chr6: 26095442 (on Assembly GRCh37)

Preferred name:

NM_000410.4(HFE):c.*988G>A

HGVS:

• NC_000006.12:g.26095214G>A
• NG_008720.2:g.12934G>A
• NM_000410.4:c.*988G>AMANE SELECT
• NM_001300749.3:c.*803G>A
• NM_001384164.1:c.*803G>A
• NM_001406751.1:c.*988G>A
• NM_001406752.1:c.*803G>A
• NM_139003.3:c.*988G>A
• NM_139004.3:c.*988G>A
• NM_139006.3:c.*988G>A
• NM_139007.3:c.*988G>A
• NM_139008.3:c.*988G>A
• NM_139009.3:c.*988G>A
• NM_139010.3:c.*988G>A
• NM_139011.3:c.*988G>A
• LRG_748t1:c.*988G>A
• LRG_748:g.12934G>A
• NC_000006.11:g.26095442G>A
• NM_000410.3:c.*988G>A
• NM_001300749.2:c.*803G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143278243

NCBI 1000 Genomes Browser:

rs143278243

Molecular consequence:

• NM_000410.4:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384164.1:c.*803G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139003.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139004.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139006.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139007.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139008.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139009.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139010.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_139011.3:c.*988G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

12