ClinVar

NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119025222 (on Assembly GRCh38)
• Chr11: 118895932 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)

HGVS:

• NC_000011.10:g.119025222G>A
• NG_013331.1:g.10684C>T
• NM_001164277.2:c.1092C>TMANE SELECT
• NM_001164278.2:c.1158C>T
• NM_001164279.2:c.873C>T
• NM_001164280.2:c.1092C>T
• NM_001467.6:c.1092C>T
• NP_001157749.1:p.Thr364=
• NP_001157750.1:p.Thr386=
• NP_001157751.1:p.Thr291=
• NP_001157752.1:p.Thr364=
• NP_001458.1:p.Thr364=
• LRG_187:g.10684C>T
• NC_000011.9:g.118895932G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1483400314

NCBI 1000 Genomes Browser:

rs1483400314

Molecular consequence:

• NM_001164277.2:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164278.2:c.1158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164279.2:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164280.2:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001467.6:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]