ClinVar

NM_006517.5(SLC16A2):c.327G>A (p.Trp109Ter)

Gene:

SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.2

Genomic location:

• ChrX: 74421964 (on Assembly GRCh38)
• ChrX: 73641799 (on Assembly GRCh37)

Preferred name:

NM_006517.5(SLC16A2):c.327G>A (p.Trp109Ter)

HGVS:

• NC_000023.11:g.74421964G>A
• NG_011641.2:g.5715G>A
• NM_006517.5:c.327G>AMANE SELECT
• NP_006508.2:p.Trp109Ter
• NC_000023.10:g.73641799G>A
• NG_011641.1:g.5715G>A

This HGVS expression did not pass validation

Protein change:

W109*

Links:

dbSNP: rs1569281190

NCBI 1000 Genomes Browser:

rs1569281190

Molecular consequence:

• NM_006517.5:c.327G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2