ClinVar

NM_004969.4(IDE):c.1707G>T (p.Leu569Phe)

Gene:

IDE:insulin degrading enzyme [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 92483287 (on Assembly GRCh38)
• Chr10: 94243044 (on Assembly GRCh37)

Preferred name:

NM_004969.4(IDE):c.1707G>T (p.Leu569Phe)

HGVS:

• NC_000010.11:g.92483287C>A
• NG_013012.1:g.95809G>T
• NM_001165946.2:c.42G>T
• NM_001322793.2:c.1707G>T
• NM_001322794.2:c.1590G>T
• NM_001322795.2:c.1584G>T
• NM_001322796.1:c.1584G>T
• NM_001322797.2:c.42G>T
• NM_001410974.1:c.1584G>T
• NM_004969.4:c.1707G>TMANE SELECT
• NP_001159418.1:p.Leu14Phe
• NP_001309722.1:p.Leu569Phe
• NP_001309723.1:p.Leu530Phe
• NP_001309724.1:p.Leu528Phe
• NP_001309725.1:p.Leu528Phe
• NP_001309726.1:p.Leu14Phe
• NP_001397903.1:p.Leu528Phe
• NP_004960.2:p.Leu569Phe
• NC_000010.10:g.94243044C>A
• NM_004969.3:c.1707G>T
• NR_136399.2:n.1781G>T

This HGVS expression did not pass validation

Protein change:

L14F

Molecular consequence:

• NM_001165946.2:c.42G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322793.2:c.1707G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322794.2:c.1590G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322795.2:c.1584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322796.1:c.1584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322797.2:c.42G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410974.1:c.1584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004969.4:c.1707G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136399.2:n.1781G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]