ClinVar

NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38120777 (on Assembly GRCh38)
• Chr22: 38516784 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met)

HGVS:

• NC_000022.11:g.38120777G>A
• NG_007094.3:g.99002C>T
• NM_001004426.3:c.1562C>T
• NM_001199562.3:c.1562C>T
• NM_001349864.2:c.1724C>T
• NM_001349865.2:c.1562C>T
• NM_001349866.2:c.1562C>T
• NM_001349867.2:c.1190C>T
• NM_001349868.2:c.1046C>T
• NM_001349869.2:c.1028C>T
• NM_003560.4:c.1724C>TMANE SELECT
• NP_001004426.1:p.Thr521Met
• NP_001186491.1:p.Thr521Met
• NP_001336793.1:p.Thr575Met
• NP_001336794.1:p.Thr521Met
• NP_001336795.1:p.Thr521Met
• NP_001336796.1:p.Thr397Met
• NP_001336797.1:p.Thr349Met
• NP_001336798.1:p.Thr343Met
• NP_003551.2:p.Thr575Met
• LRG_1015t1:c.1724C>T
• LRG_1015:g.99002C>T
• LRG_1015p1:p.Thr575Met
• NC_000022.10:g.38516784G>A
• NC_000022.10:g.38516784G>A
• NG_007094.2:g.89914C>T
• NM_003560.2:c.1724C>T

This HGVS expression did not pass validation

Protein change:

T343M

Links:

dbSNP: rs144012369

NCBI 1000 Genomes Browser:

rs144012369

Molecular consequence:

• NM_001004426.3:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199562.3:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349864.2:c.1724C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349865.2:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349866.2:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349867.2:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349868.2:c.1046C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349869.2:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003560.4:c.1724C>T - missense variant - [Sequence Ontology: SO:0001583]