ClinVar

NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38440802 (on Assembly GRCh38)
• Chr19: 38931442 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)

Other names:

NM_000540.3(RYR1):c.103T>C

HGVS:

• NC_000019.10:g.38440802T>C
• NG_008866.1:g.12103T>C
• NM_000540.3:c.103T>CMANE SELECT
• NM_001042723.2:c.103T>C
• NP_000531.2:p.Cys35Arg
• NP_000531.2:p.Cys35Arg
• NP_001036188.1:p.Cys35Arg
• LRG_766t1:c.103T>C
• LRG_766:g.12103T>C
• LRG_766p1:p.Cys35Arg
• NC_000019.9:g.38931442T>C
• NM_000540.2:c.103T>C
• P21817:p.Cys35Arg
• p.(Cys35Arg)

This HGVS expression did not pass validation

Protein change:

C35R

Links:

PharmGKB: 1445400910PA164749136; PharmGKB: 1445400910PA449461; PharmGKB: 1445400910PA449845; PharmGKB: 1445400910PA450106; PharmGKB: 1445400910PA450434; PharmGKB: 1445400910PA451341; PharmGKB: 1445400910PA451522; UniProtKB: P21817#VAR_005589; dbSNP: rs193922747

NCBI 1000 Genomes Browser:

rs193922747

Molecular consequence:

• NM_000540.3:c.103T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.103T>C - missense variant - [Sequence Ontology: SO:0001583]