ClinVar

NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38123180 (on Assembly GRCh38)
• Chr22: 38519187 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)

HGVS:

• NC_000022.11:g.38123180C>G
• NG_007094.3:g.96599G>C
• NM_001004426.3:c.1344G>C
• NM_001199562.3:c.1344G>C
• NM_001349864.2:c.1506G>C
• NM_001349865.2:c.1344G>C
• NM_001349866.2:c.1344G>C
• NM_001349867.2:c.972G>C
• NM_001349868.2:c.828G>C
• NM_001349869.2:c.810G>C
• NM_003560.4:c.1506G>CMANE SELECT
• NP_001004426.1:p.Lys448Asn
• NP_001186491.1:p.Lys448Asn
• NP_001336793.1:p.Lys502Asn
• NP_001336794.1:p.Lys448Asn
• NP_001336795.1:p.Lys448Asn
• NP_001336796.1:p.Lys324Asn
• NP_001336797.1:p.Lys276Asn
• NP_001336798.1:p.Lys270Asn
• NP_003551.2:p.Lys502Asn
• LRG_1015t1:c.1506G>C
• LRG_1015:g.96599G>C
• LRG_1015p1:p.Lys502Asn
• NC_000022.10:g.38519187C>G
• NG_007094.2:g.87511G>C
• NM_003560.2:c.1506G>C

This HGVS expression did not pass validation

Protein change:

K270N

Links:

dbSNP: rs1555988382

NCBI 1000 Genomes Browser:

rs1555988382

Molecular consequence:

• NM_001004426.3:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199562.3:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349864.2:c.1506G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349865.2:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349866.2:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349867.2:c.972G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349868.2:c.828G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349869.2:c.810G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003560.4:c.1506G>C - missense variant - [Sequence Ontology: SO:0001583]