ClinVar

NM_002667.5(PLN):c.61C>A (p.Pro21Thr)

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: 118558982 (on Assembly GRCh38)
• Chr6: 118880145 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.61C>A (p.Pro21Thr)

HGVS:

• NC_000006.12:g.118558982C>A
• NG_009082.1:g.15704C>A
• NG_021248.1:g.156094G>T
• NM_001042475.3:c.1020+6547G>TMANE SELECT
• NM_001178035.2:c.1029+6547G>T
• NM_002667.5:c.61C>AMANE SELECT
• NM_206921.3:c.1020+6547G>T
• NP_002658.1:p.Pro21Thr
• LRG_390t1:c.61C>A
• LRG_390:g.15704C>A
• NC_000006.11:g.118880145C>A
• NM_002667.3:c.61C>A
• c.61C>A

This HGVS expression did not pass validation

Protein change:

P21T

Links:

dbSNP: rs397516786

NCBI 1000 Genomes Browser:

rs397516786

Molecular consequence:

• NM_001042475.3:c.1020+6547G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6547G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6547G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002667.5:c.61C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1