ClinVar

NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119025993 (on Assembly GRCh38)
• Chr11: 118896703 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)

HGVS:

• NC_000011.10:g.119025993C>A
• NG_013331.1:g.9913G>T
• NM_001164277.2:c.958G>TMANE SELECT
• NM_001164278.2:c.958G>T
• NM_001164279.2:c.739G>T
• NM_001164280.2:c.958G>T
• NM_001467.6:c.958G>T
• NP_001157749.1:p.Val320Leu
• NP_001157749.1:p.Val320Leu
• NP_001157750.1:p.Val320Leu
• NP_001157751.1:p.Val247Leu
• NP_001157752.1:p.Val320Leu
• NP_001458.1:p.Val320Leu
• LRG_187t1:c.958G>T
• LRG_187:g.9913G>T
• LRG_187p1:p.Val320Leu
• NC_000011.9:g.118896703C>A
• NM_001164277.1:c.958G>T

This HGVS expression did not pass validation

Protein change:

V247L

Links:

dbSNP: rs1168556886

NCBI 1000 Genomes Browser:

rs1168556886

Molecular consequence:

• NM_001164277.2:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]