ClinVar

NM_002667.5(PLN):c.*4T>A

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: 118559084 (on Assembly GRCh38)
• Chr6: 118880247 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.*4T>A

Other names:

c.*4T>A

HGVS:

• NC_000006.12:g.118559084T>A
• NG_009082.1:g.15806T>A
• NG_021248.1:g.155992A>T
• NM_001042475.3:c.1020+6445A>TMANE SELECT
• NM_001178035.2:c.1029+6445A>T
• NM_002667.5:c.*4T>AMANE SELECT
• NM_206921.3:c.1020+6445A>T
• LRG_390t1:c.*4T>A
• LRG_390:g.15806T>A
• NC_000006.11:g.118880247T>A
• NM_002667.3:c.*4T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs397516782

NCBI 1000 Genomes Browser:

rs397516782

Molecular consequence:

• NM_002667.5:c.*4T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001042475.3:c.1020+6445A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6445A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6445A>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1