ClinVar

NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119028402 (on Assembly GRCh38)
• Chr11: 118899112 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)

HGVS:

• NC_000011.10:g.119028402G>A
• NG_013331.1:g.7505C>T
• NM_001164277.2:c.173C>TMANE SELECT
• NM_001164278.2:c.173C>T
• NM_001164279.2:c.-47C>T
• NM_001164280.2:c.173C>T
• NM_001467.6:c.173C>T
• NP_001157749.1:p.Ala58Val
• NP_001157749.1:p.Ala58Val
• NP_001157750.1:p.Ala58Val
• NP_001157752.1:p.Ala58Val
• NP_001458.1:p.Ala58Val
• LRG_187t1:c.173C>T
• LRG_187:g.7505C>T
• LRG_187p1:p.Ala58Val
• NC_000011.9:g.118899112G>A
• NM_001164277.1:c.173C>T

This HGVS expression did not pass validation

Protein change:

A58V

Links:

dbSNP: rs782083266

NCBI 1000 Genomes Browser:

rs782083266

Molecular consequence:

• NM_001164279.2:c.-47C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001164277.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]