ClinVar

NM_000410.4(HFE):c.616+13C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26091602 (on Assembly GRCh38)
• Chr6: 26091830 (on Assembly GRCh37)

Preferred name:

NM_000410.4(HFE):c.616+13C>T

HGVS:

• NC_000006.12:g.26091602C>T
• NG_008720.2:g.9322C>T
• NM_000410.4:c.616+13C>TMANE SELECT
• NM_001300749.3:c.616+13C>T
• NM_001384164.1:c.616+13C>T
• NM_001406751.1:c.616+13C>T
• NM_001406752.1:c.352+13C>T
• NM_139003.3:c.340+498C>T
• NM_139004.3:c.340+498C>T
• NM_139006.3:c.616+13C>T
• NM_139007.3:c.352+13C>T
• NM_139008.3:c.352+13C>T
• NM_139009.3:c.547+13C>T
• NM_139010.3:c.77-1083C>T
• NM_139011.3:c.77-1517C>T
• LRG_748:g.9322C>T
• NC_000006.11:g.26091830C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000410.4:c.616+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001300749.3:c.616+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384164.1:c.616+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406751.1:c.616+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406752.1:c.352+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139003.3:c.340+498C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139004.3:c.340+498C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139006.3:c.616+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139007.3:c.352+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139008.3:c.352+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139009.3:c.547+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139010.3:c.77-1083C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139011.3:c.77-1517C>T - intron variant - [Sequence Ontology: SO:0001627]