ClinVar

NM_002667.5(PLN):c.*199T>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: 118559279 (on Assembly GRCh38)
• Chr6: 118880442 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.*199T>A

HGVS:

• NC_000006.12:g.118559279T>A
• NG_009082.1:g.16001T>A
• NG_021248.1:g.155797A>T
• NM_001042475.3:c.1020+6250A>TMANE SELECT
• NM_001178035.2:c.1029+6250A>T
• NM_002667.5:c.*199T>AMANE SELECT
• NM_206921.3:c.1020+6250A>T
• LRG_390t1:c.*199T>A
• LRG_390:g.16001T>A
• NC_000006.11:g.118880442T>A
• NM_002667.3:c.*199T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886060999

NCBI 1000 Genomes Browser:

rs886060999

Molecular consequence:

• NM_002667.5:c.*199T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001042475.3:c.1020+6250A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6250A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6250A>T - intron variant - [Sequence Ontology: SO:0001627]