ClinVar

NM_004896.5(VPS26A):c.559T>A (p.Leu187Ile)

Gene:

VPS26A:VPS26 retromer complex component A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 69162413 (on Assembly GRCh38)
• Chr10: 70922169 (on Assembly GRCh37)

Preferred name:

NM_004896.5(VPS26A):c.559T>A (p.Leu187Ile)

HGVS:

• NC_000010.11:g.69162413T>A
• NM_001035260.3:c.559T>A
• NM_001318944.2:c.538T>A
• NM_001318945.2:c.508T>A
• NM_001318946.2:c.226T>A
• NM_004896.5:c.559T>AMANE SELECT
• NP_001030337.1:p.Leu187Ile
• NP_001305873.1:p.Leu180Ile
• NP_001305874.1:p.Leu170Ile
• NP_001305875.1:p.Leu76Ile
• NP_004887.2:p.Leu187Ile
• NC_000010.10:g.70922169T>A
• NM_004896.3:c.559T>A

This HGVS expression did not pass validation

Protein change:

L170I

Molecular consequence:

• NM_001035260.3:c.559T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318944.2:c.538T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318945.2:c.508T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318946.2:c.226T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004896.5:c.559T>A - missense variant - [Sequence Ontology: SO:0001583]