ClinVar

NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38115533 (on Assembly GRCh38)
• Chr22: 38511540 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)

HGVS:

• NC_000022.11:g.38115533G>A
• NG_007094.3:g.104246C>T
• NG_033059.2:g.137C>T
• NM_001004426.3:c.1866C>T
• NM_001199562.3:c.1866C>T
• NM_001349864.2:c.2028C>T
• NM_001349865.2:c.1866C>T
• NM_001349866.2:c.1866C>T
• NM_001349867.2:c.1494C>T
• NM_001349868.2:c.1350C>T
• NM_001349869.2:c.1332C>T
• NM_003560.4:c.2028C>TMANE SELECT
• NP_001004426.1:p.Ile622=
• NP_001186491.1:p.Ile622=
• NP_001336793.1:p.Ile676=
• NP_001336794.1:p.Ile622=
• NP_001336795.1:p.Ile622=
• NP_001336796.1:p.Ile498=
• NP_001336797.1:p.Ile450=
• NP_001336798.1:p.Ile444=
• NP_003551.2:p.Ile676=
• LRG_1015t1:c.2028C>T
• LRG_1015:g.104246C>T
• LRG_1015p1:p.Ile676=
• NC_000022.10:g.38511540G>A
• NC_000022.10:g.38511540G>A
• NG_007094.2:g.95158C>T
• NM_003560.2:c.2028C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs561645994

NCBI 1000 Genomes Browser:

rs561645994

Molecular consequence:

• NM_001004426.3:c.1866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199562.3:c.1866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349864.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349865.2:c.1866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349866.2:c.1866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349867.2:c.1494C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349868.2:c.1350C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349869.2:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003560.4:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]