ClinVar

NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38500636 (on Assembly GRCh38)
• Chr19: 38991276 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)

HGVS:

• NC_000019.10:g.38500636C>T
• NG_008866.1:g.71937C>T
• NM_000540.3:c.7354C>TMANE SELECT
• NM_001042723.2:c.7354C>T
• NP_000531.2:p.Arg2452Trp
• NP_000531.2:p.Arg2452Trp
• NP_001036188.1:p.Arg2452Trp
• LRG_766t1:c.7354C>T
• LRG_766:g.71937C>T
• LRG_766p1:p.Arg2452Trp
• NC_000019.9:g.38991276C>T
• NM_000540.2:c.7354C>T
• NP_000531.2:p.R2452W
• P21817:p.Arg2452Trp
• p.(Arg2452Trp)
• r.(?)

This HGVS expression did not pass validation

Protein change:

R2452W; ARG2452TRP

Links:

PharmGKB: 1445400172PA164749136; PharmGKB: 1445400172PA449461; PharmGKB: 1445400172PA449845; PharmGKB: 1445400172PA450106; PharmGKB: 1445400172PA450434; PharmGKB: 1445400172PA451341; PharmGKB: 1445400172PA451522; UniProtKB: P21817#VAR_045728; OMIM: 180901.0042; dbSNP: rs118192124

NCBI 1000 Genomes Browser:

rs118192124

Molecular consequence:

• NM_000540.3:c.7354C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7354C>T - missense variant - [Sequence Ontology: SO:0001583]