ClinVar

NM_003560.4(PLA2G6):c.1888G>T (p.Val630Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38115673 (on Assembly GRCh38)
• Chr22: 38511680 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.1888G>T (p.Val630Leu)

HGVS:

• NC_000022.11:g.38115673C>A
• NG_007094.3:g.104106G>T
• NM_001004426.3:c.1726G>T
• NM_001199562.3:c.1726G>T
• NM_001349864.2:c.1888G>T
• NM_001349865.2:c.1726G>T
• NM_001349866.2:c.1726G>T
• NM_001349867.2:c.1354G>T
• NM_001349868.2:c.1210G>T
• NM_001349869.2:c.1192G>T
• NM_003560.4:c.1888G>TMANE SELECT
• NP_001004426.1:p.Val576Leu
• NP_001186491.1:p.Val576Leu
• NP_001336793.1:p.Val630Leu
• NP_001336794.1:p.Val576Leu
• NP_001336795.1:p.Val576Leu
• NP_001336796.1:p.Val452Leu
• NP_001336797.1:p.Val404Leu
• NP_001336798.1:p.Val398Leu
• NP_003551.2:p.Val630Leu
• LRG_1015t1:c.1888G>T
• LRG_1015:g.104106G>T
• LRG_1015p1:p.Val630Leu
• NC_000022.10:g.38511680C>A
• NG_007094.2:g.95018G>T
• NM_003560.2:c.1888G>T

This HGVS expression did not pass validation

Protein change:

V398L

Links:

dbSNP: rs1375695546

NCBI 1000 Genomes Browser:

rs1375695546

Molecular consequence:

• NM_001004426.3:c.1726G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199562.3:c.1726G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349864.2:c.1888G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349865.2:c.1726G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349866.2:c.1726G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349867.2:c.1354G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349868.2:c.1210G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349869.2:c.1192G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003560.4:c.1888G>T - missense variant - [Sequence Ontology: SO:0001583]