ClinVar

NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38116183 (on Assembly GRCh38)
• Chr22: 38512190 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)

Other names:

NM_003560.4(PLA2G6):c.1771C>T; p.Arg591Trp

HGVS:

• NC_000022.11:g.38116183G>A
• NG_007094.3:g.103596C>T
• NM_001004426.3:c.1609C>T
• NM_001199562.3:c.1609C>T
• NM_001349864.2:c.1771C>T
• NM_001349865.2:c.1609C>T
• NM_001349866.2:c.1609C>T
• NM_001349867.2:c.1237C>T
• NM_001349868.2:c.1093C>T
• NM_001349869.2:c.1075C>T
• NM_003560.4:c.1771C>TMANE SELECT
• NP_001004426.1:p.Arg537Trp
• NP_001186491.1:p.Arg537Trp
• NP_001336793.1:p.Arg591Trp
• NP_001336794.1:p.Arg537Trp
• NP_001336795.1:p.Arg537Trp
• NP_001336796.1:p.Arg413Trp
• NP_001336797.1:p.Arg365Trp
• NP_001336798.1:p.Arg359Trp
• NP_003551.2:p.Arg591Trp
• LRG_1015t1:c.1771C>T
• LRG_1015:g.103596C>T
• LRG_1015p1:p.Arg591Trp
• NC_000022.10:g.38512190G>A
• NG_007094.2:g.94508C>T

This HGVS expression did not pass validation

Protein change:

R359W

Links:

dbSNP: rs1043378899

NCBI 1000 Genomes Browser:

rs1043378899

Molecular consequence:

• NM_001004426.3:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199562.3:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349864.2:c.1771C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349865.2:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349866.2:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349867.2:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349868.2:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349869.2:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003560.4:c.1771C>T - missense variant - [Sequence Ontology: SO:0001583]