ClinVar

NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119025321 (on Assembly GRCh38)
• Chr11: 118896031 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)

HGVS:

• NC_000011.10:g.119025321G>C
• NG_013331.1:g.10585C>G
• NM_001164277.2:c.993C>GMANE SELECT
• NM_001164278.2:c.1059C>G
• NM_001164279.2:c.774C>G
• NM_001164280.2:c.993C>G
• NM_001467.6:c.993C>G
• NP_001157749.1:p.Ile331Met
• NP_001157749.1:p.Ile331Met
• NP_001157750.1:p.Ile353Met
• NP_001157751.1:p.Ile258Met
• NP_001157752.1:p.Ile331Met
• NP_001458.1:p.Ile331Met
• LRG_187t1:c.993C>G
• LRG_187:g.10585C>G
• LRG_187p1:p.Ile331Met
• NC_000011.9:g.118896031G>C
• NM_001164277.1:c.993C>G

This HGVS expression did not pass validation

Protein change:

I258M

Links:

dbSNP: rs1555190553

NCBI 1000 Genomes Browser:

rs1555190553

Molecular consequence:

• NM_001164277.2:c.993C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.1059C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.993C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.993C>G - missense variant - [Sequence Ontology: SO:0001583]