ClinVar

NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119027018 (on Assembly GRCh38)
• Chr11: 118897728 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)

HGVS:

• NC_000011.10:g.119027018C>G
• NG_013331.1:g.8888G>C
• NM_001164277.2:c.703G>CMANE SELECT
• NM_001164278.2:c.703G>C
• NM_001164279.2:c.484G>C
• NM_001164280.2:c.703G>C
• NM_001467.6:c.703G>C
• NP_001157749.1:p.Val235Leu
• NP_001157749.1:p.Val235Leu
• NP_001157750.1:p.Val235Leu
• NP_001157751.1:p.Val162Leu
• NP_001157752.1:p.Val235Leu
• NP_001458.1:p.Val235Leu
• LRG_187t1:c.703G>C
• LRG_187:g.8888G>C
• LRG_187p1:p.Val235Leu
• NC_000011.9:g.118897728C>G
• NM_001164277.1:c.703G>C

This HGVS expression did not pass validation

Protein change:

V162L

Links:

dbSNP: rs141105181

NCBI 1000 Genomes Browser:

rs141105181

Molecular consequence:

• NM_001164277.2:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.484G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.703G>C - missense variant - [Sequence Ontology: SO:0001583]