ClinVar

NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38132918 (on Assembly GRCh38)
• Chr22: 38528925 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)

HGVS:

• NC_000022.11:g.38132918G>A
• NG_007094.3:g.86861C>T
• NM_001004426.3:c.990C>T
• NM_001199562.3:c.990C>T
• NM_001349864.2:c.990C>T
• NM_001349865.2:c.990C>T
• NM_001349866.2:c.990C>T
• NM_001349867.2:c.456C>T
• NM_001349868.2:c.312C>T
• NM_001349869.2:c.456C>T
• NM_003560.4:c.990C>TMANE SELECT
• NP_001004426.1:p.Phe330=
• NP_001186491.1:p.Phe330=
• NP_001336793.1:p.Phe330=
• NP_001336794.1:p.Phe330=
• NP_001336795.1:p.Phe330=
• NP_001336796.1:p.Phe152=
• NP_001336797.1:p.Phe104=
• NP_001336798.1:p.Phe152=
• NP_003551.2:p.Phe330=
• LRG_1015t1:c.990C>T
• LRG_1015:g.86861C>T
• LRG_1015p1:p.Phe330=
• NC_000022.10:g.38528925G>A
• NG_007094.2:g.77773C>T
• NM_003560.2:c.990C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs146241431

NCBI 1000 Genomes Browser:

rs146241431

Molecular consequence:

• NM_001004426.3:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199562.3:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349864.2:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349865.2:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349866.2:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349867.2:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349868.2:c.312C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349869.2:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003560.4:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

15