ClinVar

NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)

Gene:

AGPAT2:1-acylglycerol-3-phosphate O-acyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 136677545 (on Assembly GRCh38)
• Chr9: 139571997 (on Assembly GRCh37)

Preferred name:

NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)

HGVS:

• NC_000009.12:g.136677545C>T
• NG_008090.1:g.14915G>A
• NM_001012727.2:c.194G>A
• NM_006412.4:c.194G>AMANE SELECT
• NP_001012745.1:p.Trp65Ter
• NP_006403.2:p.Trp65Ter
• NC_000009.11:g.139571997C>T
• NM_006412.3:c.194G>A

This HGVS expression did not pass validation

Protein change:

W65*

Links:

dbSNP: rs1057517651

NCBI 1000 Genomes Browser:

rs1057517651

Molecular consequence:

• NM_001012727.2:c.194G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_006412.4:c.194G>A - nonsense - [Sequence Ontology: SO:0001587]