ClinVar

NM_002667.5(PLN):c.-97-198AC[18]

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

6q22.31

Genomic location:

• Chr6: 118558626 - 118558627 (on Assembly GRCh38)
• Chr6: 118879789 - 118879790 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.-97-198AC[18]

HGVS:

• NC_000006.12:g.118558628CA[18]
• NG_009082.1:g.15350CA[18]
• NG_021248.1:g.156416GT[18]
• NM_001042475.3:c.1020+6869GT[18]MANE SELECT
• NM_001178035.2:c.1029+6869GT[18]
• NM_002667.5:c.-97-198AC[18]MANE SELECT
• NM_206921.3:c.1020+6869GT[18]
• LRG_390:g.15350CA[18]
• NC_000006.11:g.118879791CA[18]

This HGVS expression did not pass validation

Links:

dbSNP: rs371775061

NCBI 1000 Genomes Browser:

rs371775061

Molecular consequence:

• NM_001042475.3:c.1020+6869GT[18] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6869GT[18] - intron variant - [Sequence Ontology: SO:0001627]
• NM_002667.5:c.-97-198AC[18] - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6869GT[18] - intron variant - [Sequence Ontology: SO:0001627]