ClinVar

NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)

Gene:

SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

• Chr5: 132390722 (on Assembly GRCh38)
• Chr5: 131726414 (on Assembly GRCh37)

Preferred name:

NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)

HGVS:

• NC_000005.10:g.132390722C>T
• NG_008982.2:g.26019C>T
• NM_001308122.2:c.1157C>T
• NM_003060.4:c.1085C>TMANE SELECT
• NP_001295051.1:p.Ser386Leu
• NP_003051.1:p.Ser362Leu
• NC_000005.9:g.131726414C>T
• NM_001308122.2:c.1157C>T
• NM_003060.3:c.1085C>T
• O76082:p.Ser362Leu

This HGVS expression did not pass validation

Protein change:

S362L

Links:

UniProtKB: O76082#VAR_064140; dbSNP: rs886042092

NCBI 1000 Genomes Browser:

rs886042092

Molecular consequence:

• NM_001308122.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003060.4:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]