ClinVar

NM_003560.4(PLA2G6):c.2277-6G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38112311 (on Assembly GRCh38)
• Chr22: 38508318 (on Assembly GRCh37)

Preferred name:

NM_003560.4(PLA2G6):c.2277-6G>A

HGVS:

• NC_000022.11:g.38112311C>T
• NG_007094.3:g.107468G>A
• NG_033059.2:g.3359G>A
• NM_001004426.3:c.2115-6G>A
• NM_001199562.3:c.2115-6G>A
• NM_001349864.2:c.2277-6G>A
• NM_001349865.2:c.2115-6G>A
• NM_001349866.2:c.2115-6G>A
• NM_001349867.2:c.1743-6G>A
• NM_001349868.2:c.1599-6G>A
• NM_001349869.2:c.1581-6G>A
• NM_003560.4:c.2277-6G>AMANE SELECT
• LRG_1015t1:c.2277-6G>A
• LRG_1015:g.107468G>A
• NC_000022.10:g.38508318C>T
• NC_000022.10:g.38508318C>T
• NG_007094.2:g.98380G>A
• NM_003560.2:c.2277-6G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs370528124

NCBI 1000 Genomes Browser:

rs370528124

Molecular consequence:

• NM_001004426.3:c.2115-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199562.3:c.2115-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349864.2:c.2277-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349865.2:c.2115-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349866.2:c.2115-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349867.2:c.1743-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349868.2:c.1599-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349869.2:c.1581-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003560.4:c.2277-6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1