ClinVar

NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38502540 (on Assembly GRCh38)
• Chr19: 38993180 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)

HGVS:

• NC_000019.10:g.38502540C>G
• NG_008866.1:g.73841C>G
• NM_000540.3:c.7648C>GMANE SELECT
• NM_001042723.2:c.7648C>G
• NP_000531.2:p.Leu2550Val
• NP_000531.2:p.Leu2550Val
• NP_001036188.1:p.Leu2550Val
• LRG_766t1:c.7648C>G
• LRG_766:g.73841C>G
• LRG_766p1:p.Leu2550Val
• NC_000019.9:g.38993180C>G
• NM_000540.2:c.7648C>G
• P21817:p.Leu2550Val
• p.(Val2550Leu)
• NP_000531.2:p.Val2550Leu

This HGVS expression did not pass validation

Protein change:

L2550V

Links:

UniProtKB: P21817#VAR_058570; dbSNP: rs193922821

NCBI 1000 Genomes Browser:

rs193922821

Molecular consequence:

• NM_000540.3:c.7648C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7648C>G - missense variant - [Sequence Ontology: SO:0001583]