ClinVar

NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119027866 (on Assembly GRCh38)
• Chr11: 118898576 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)

HGVS:

• NC_000011.10:g.119027866C>T
• NG_013331.1:g.8041G>A
• NM_001164277.2:c.388G>AMANE SELECT
• NM_001164278.2:c.388G>A
• NM_001164279.2:c.169G>A
• NM_001164280.2:c.388G>A
• NM_001467.6:c.388G>A
• NP_001157749.1:p.Glu130Lys
• NP_001157749.1:p.Glu130Lys
• NP_001157750.1:p.Glu130Lys
• NP_001157751.1:p.Glu57Lys
• NP_001157752.1:p.Glu130Lys
• NP_001458.1:p.Glu130Lys
• LRG_187t1:c.388G>A
• LRG_187:g.8041G>A
• LRG_187p1:p.Glu130Lys
• NC_000011.9:g.118898576C>T
• NM_001164277.1:c.388G>A

This HGVS expression did not pass validation

Protein change:

E130K

Links:

dbSNP: rs1555191401

NCBI 1000 Genomes Browser:

rs1555191401

Molecular consequence:

• NM_001164277.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]