ClinVar

NM_002667.5(PLN):c.145G>A (p.Val49Met)

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: 118559066 (on Assembly GRCh38)
• Chr6: 118880229 (on Assembly GRCh37)

Preferred name:

NM_002667.5(PLN):c.145G>A (p.Val49Met)

Other names:

p.V49M:GTG>ATG

HGVS:

• NC_000006.12:g.118559066G>A
• NG_009082.1:g.15788G>A
• NG_021248.1:g.156010C>T
• NM_001042475.3:c.1020+6463C>TMANE SELECT
• NM_001178035.2:c.1029+6463C>T
• NM_002667.5:c.145G>AMANE SELECT
• NM_206921.3:c.1020+6463C>T
• NP_002658.1:p.Val49Met
• NP_002658.1:p.Val49Met
• LRG_390t1:c.145G>A
• LRG_390:g.15788G>A
• LRG_390p1:p.Val49Met
• NC_000006.11:g.118880229G>A
• NM_002667.3:c.145G>A
• NM_002667.4:c.145G>A

This HGVS expression did not pass validation

Protein change:

V49M

Links:

dbSNP: rs749962743

NCBI 1000 Genomes Browser:

rs749962743

Molecular consequence:

• NM_001042475.3:c.1020+6463C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178035.2:c.1029+6463C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206921.3:c.1020+6463C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002667.5:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]