ClinVar

NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119026072 (on Assembly GRCh38)
• Chr11: 118896782 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)

HGVS:

• NC_000011.10:g.119026072C>T
• NG_013331.1:g.9834G>A
• NM_001164277.2:c.879G>AMANE SELECT
• NM_001164278.2:c.879G>A
• NM_001164279.2:c.660G>A
• NM_001164280.2:c.879G>A
• NM_001467.6:c.879G>A
• NP_001157749.1:p.Leu293=
• NP_001157749.1:p.Leu293=
• NP_001157750.1:p.Leu293=
• NP_001157751.1:p.Leu220=
• NP_001157752.1:p.Leu293=
• NP_001458.1:p.Leu293=
• NP_001458.1:p.Leu293=
• LRG_187t1:c.879G>A
• LRG_187:g.9834G>A
• LRG_187p1:p.Leu293=
• NC_000011.9:g.118896782C>T
• NM_001164277.1:c.879G>A
• NM_001467.4:c.879G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001164277.2:c.879G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164278.2:c.879G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164279.2:c.660G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164280.2:c.879G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001467.6:c.879G>A - synonymous variant - [Sequence Ontology: SO:0001819]