ClinVar

NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38440829 (on Assembly GRCh38)
• Chr19: 38931469 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)

Other names:

NM_000540.3(RYR1):c.130C>T

HGVS:

• NC_000019.10:g.38440829C>T
• NG_008866.1:g.12130C>T
• NM_000540.3:c.130C>TMANE SELECT
• NM_001042723.2:c.130C>T
• NP_000531.2:p.Arg44Cys
• NP_000531.2:p.Arg44Cys
• NP_001036188.1:p.Arg44Cys
• LRG_766t1:c.130C>T
• LRG_766:g.12130C>T
• LRG_766p1:p.Arg44Cys
• NC_000019.9:g.38931469C>T
• NM_000540.2:c.130C>T
• P21817:p.Arg44Cys
• p.(Arg44Cys)

This HGVS expression did not pass validation

Protein change:

R44C

Links:

PharmGKB: 1449747643PA164749136; PharmGKB: 1449747643PA449461; PharmGKB: 1449747643PA449845; PharmGKB: 1449747643PA450106; PharmGKB: 1449747643PA450434; PharmGKB: 1449747643PA451341; PharmGKB: 1449747643PA451522; UniProtKB: P21817#VAR_045695; dbSNP: rs193922748

NCBI 1000 Genomes Browser:

rs193922748

Molecular consequence:

• NM_000540.3:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1