ClinVar

NM_001351537.2(SLC38A11):c.929T>G (p.Leu310Trp)

Gene:

SLC38A11:solute carrier family 38 member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 164911670 (on Assembly GRCh38)
• Chr2: 165768180 (on Assembly GRCh37)

Preferred name:

NM_001351537.2(SLC38A11):c.929T>G (p.Leu310Trp)

HGVS:

• NC_000002.12:g.164911670A>C
• NM_001199148.2:c.761T>G
• NM_001351537.2:c.929T>GMANE SELECT
• NM_001351538.2:c.761T>G
• NM_001351539.2:c.563T>G
• NM_001351540.2:c.344T>G
• NM_173512.3:c.695T>G
• NP_001186077.1:p.Leu254Trp
• NP_001338466.1:p.Leu310Trp
• NP_001338467.1:p.Leu254Trp
• NP_001338468.1:p.Leu188Trp
• NP_001338469.1:p.Leu115Trp
• NP_775783.1:p.Leu232Trp
• NC_000002.11:g.165768180A>C
• NM_001199148.1:c.761T>G

This HGVS expression did not pass validation

Protein change:

L115W

Molecular consequence:

• NM_001199148.2:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351537.2:c.929T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351538.2:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351539.2:c.563T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351540.2:c.344T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173512.3:c.695T>G - missense variant - [Sequence Ontology: SO:0001583]