ClinVar

NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)

Gene:

PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38120852 (on Assembly GRCh38)
• Chr22: 38516859 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)

Other names:

p.Arg550Gln

HGVS:

• NC_000022.11:g.38120852C>T
• NG_007094.3:g.98927G>A
• NM_001004426.3:c.1487G>A
• NM_001199562.3:c.1487G>A
• NM_001349864.2:c.1649G>A
• NM_001349865.2:c.1487G>A
• NM_001349866.2:c.1487G>A
• NM_001349867.2:c.1115G>A
• NM_001349868.2:c.971G>A
• NM_001349869.2:c.953G>A
• NM_003560.4:c.1649G>AMANE SELECT
• NP_001004426.1:p.Arg496Gln
• NP_001186491.1:p.Arg496Gln
• NP_001336793.1:p.Arg550Gln
• NP_001336794.1:p.Arg496Gln
• NP_001336795.1:p.Arg496Gln
• NP_001336796.1:p.Arg372Gln
• NP_001336797.1:p.Arg324Gln
• NP_001336798.1:p.Arg318Gln
• NP_003551.2:p.Arg550Gln
• LRG_1015t1:c.1649G>A
• LRG_1015:g.98927G>A
• LRG_1015p1:p.Arg550Gln
• NC_000022.10:g.38516859C>T
• NM_003560.3:c.1649G>A

This HGVS expression did not pass validation

Protein change:

R318Q

Links:

dbSNP: rs376051062

NCBI 1000 Genomes Browser:

rs376051062

Molecular consequence:

• NM_001004426.3:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199562.3:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349864.2:c.1649G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349865.2:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349866.2:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349867.2:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349868.2:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349869.2:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003560.4:c.1649G>A - missense variant - [Sequence Ontology: SO:0001583]