ClinVar

NM_002667.5(PLN):c.144C>T (p.Ile48=)

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: 118559065 (on Assembly GRCh38)
• Chr6: 118880228 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.144C>T (p.Ile48=)

HGVS:

• NC_000006.12:g.118559065C>T
• NG_009082.1:g.15787C>T
• NG_021248.1:g.156011G>A
• NM_001042475.3:c.1020+6464G>AMANE SELECT
• NM_001178035.2:c.1029+6464G>A
• NM_002667.5:c.144C>TMANE SELECT
• NM_206921.3:c.1020+6464G>A
• NP_002658.1:p.Ile48=
• NP_002658.1:p.Ile48=
• LRG_390t1:c.144C>T
• LRG_390:g.15787C>T
• LRG_390p1:p.Ile48=
• NC_000006.11:g.118880228C>T
• NM_002667.3:c.144C>T
• NM_002667.4:c.144C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141114252

NCBI 1000 Genomes Browser:

rs141114252

Molecular consequence:

• NM_001042475.3:c.1020+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6464G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002667.5:c.144C>T - synonymous variant - [Sequence Ontology: SO:0001819]