ClinVar

NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119025036 (on Assembly GRCh38)
• Chr11: 118895746 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)

HGVS:

• NC_000011.10:g.119025036G>C
• NG_013331.1:g.10870C>G
• NM_001164277.2:c.1164C>GMANE SELECT
• NM_001164278.2:c.1230C>G
• NM_001164279.2:c.945C>G
• NM_001164280.2:c.1164C>G
• NM_001467.6:c.1164C>G
• NP_001157749.1:p.Ala388=
• NP_001157749.1:p.Ala388=
• NP_001157750.1:p.Ala410=
• NP_001157751.1:p.Ala315=
• NP_001157752.1:p.Ala388=
• NP_001458.1:p.Ala388=
• LRG_187t1:c.1164C>G
• LRG_187:g.10870C>G
• LRG_187p1:p.Ala388=
• NC_000011.9:g.118895746G>C
• NM_001164277.1:c.1164C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1464199067

NCBI 1000 Genomes Browser:

rs1464199067

Molecular consequence:

• NM_001164277.2:c.1164C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164278.2:c.1230C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164279.2:c.945C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164280.2:c.1164C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001467.6:c.1164C>G - synonymous variant - [Sequence Ontology: SO:0001819]