ClinVar

NM_002667.5(PLN):c.156C>A (p.Leu52=)

Genes:

CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
PLN:phospholamban [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.31

Genomic location:

• Chr6: 118559077 (on Assembly GRCh38)
• Chr6: 118880240 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.156C>A (p.Leu52=)

HGVS:

• NC_000006.12:g.118559077C>A
• NG_009082.1:g.15799C>A
• NG_021248.1:g.155999G>T
• NM_001042475.3:c.1020+6452G>TMANE SELECT
• NM_001178035.2:c.1029+6452G>T
• NM_002667.5:c.156C>AMANE SELECT
• NM_206921.3:c.1020+6452G>T
• NP_002658.1:p.Leu52=
• NP_002658.1:p.Leu52=
• LRG_390t1:c.156C>A
• LRG_390:g.15799C>A
• LRG_390p1:p.Leu52=
• NC_000006.11:g.118880240C>A
• NM_002667.3:c.156C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1779077253

NCBI 1000 Genomes Browser:

rs1779077253

Molecular consequence:

• NM_001042475.3:c.1020+6452G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6452G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6452G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002667.5:c.156C>A - synonymous variant - [Sequence Ontology: SO:0001819]