ClinVar

NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38494579 (on Assembly GRCh38)
• Chr19: 38985219 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)

HGVS:

• NC_000019.10:g.38494579G>A
• NG_008866.1:g.65880G>A
• NM_000540.3:c.6502G>AMANE SELECT
• NM_001042723.2:c.6502G>A
• NP_000531.2:p.Val2168Met
• NP_000531.2:p.Val2168Met
• NP_001036188.1:p.Val2168Met
• LRG_766t1:c.6502G>A
• LRG_766:g.65880G>A
• LRG_766p1:p.Val2168Met
• NC_000019.9:g.38985219G>A
• NM_000540.2:c.6502G>A
• P21817:p.Val2168Met
• p.(Val2168Met)

This HGVS expression did not pass validation

Protein change:

V2168M; VAL2168MET

Links:

PharmGKB: 1183705802PA164749136; PharmGKB: 1183705802PA449461; PharmGKB: 1183705802PA449845; PharmGKB: 1183705802PA450106; PharmGKB: 1183705802PA450434; PharmGKB: 1183705802PA451341; PharmGKB: 1183705802PA451522; UniProtKB: P21817#VAR_005603; OMIM: 180901.0013; dbSNP: rs118192176

NCBI 1000 Genomes Browser:

rs118192176

Molecular consequence:

• NM_000540.3:c.6502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.6502G>A - missense variant - [Sequence Ontology: SO:0001583]