ClinVar

NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

• Chr5: 132385367 (on Assembly GRCh38)
• Chr5: 131721059 (on Assembly GRCh37)

Preferred name:

NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)

HGVS:

• NC_000005.10:g.132385367C>T
• NG_008982.2:g.20664C>T
• NM_001308122.2:c.764C>T
• NM_003060.4:c.692C>TMANE SELECT
• NP_001295051.1:p.Ser255Phe
• NP_001295051.1:p.Ser255Phe
• NP_003051.1:p.Ser231Phe
• NC_000005.9:g.131721059C>T
• NM_001308122.1:c.764C>T

This HGVS expression did not pass validation

Protein change:

S255F

Links:

dbSNP: rs386134206

NCBI 1000 Genomes Browser:

rs386134206

Molecular consequence:

• NM_001308122.2:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003060.4:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]