ClinVar

NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp)

Gene:

SLC27A5:solute carrier family 27 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.43

Genomic location:

• Chr19: 58511799 (on Assembly GRCh38)
• Chr19: 59023166 (on Assembly GRCh37)

Preferred name:

NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp)

HGVS:

• NC_000019.10:g.58511799G>A
• NG_047124.1:g.5267C>T
• NM_001321196.2:c.157C>T
• NM_012254.2:c.157C>T
• NM_012254.3:c.157C>TMANE SELECT
• NP_001308125.1:p.Arg53Trp
• NP_036386.1:p.Arg53Trp
• NC_000019.9:g.59023166G>A
• Q9Y2P5:p.Arg53Trp

This HGVS expression did not pass validation

Protein change:

R53W

Links:

UniProtKB: Q9Y2P5#VAR_048244; dbSNP: rs34415062

NCBI 1000 Genomes Browser:

rs34415062

Molecular consequence:

• NM_001321196.2:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012254.3:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5