ClinVar

NM_005094.4(SLC27A4):c.823C>T (p.Arg275Cys)

Gene:

SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128350521 (on Assembly GRCh38)
• Chr9: 131112800 (on Assembly GRCh37)

Preferred name:

NM_005094.4(SLC27A4):c.823C>T (p.Arg275Cys)

HGVS:

• NC_000009.12:g.128350521C>T
• NG_017057.1:g.14962C>T
• NM_005094.4:c.823C>TMANE SELECT
• NP_005085.2:p.Arg275Cys
• NC_000009.11:g.131112800C>T
• NM_005094.3:c.823C>T

This HGVS expression did not pass validation

Protein change:

R275C

Links:

dbSNP: rs587776380

NCBI 1000 Genomes Browser:

rs587776380

Molecular consequence:

• NM_005094.4:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]