ClinVar

NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38455359 (on Assembly GRCh38)
• Chr19: 38945999 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)

Other names:

NM_000540.3(RYR1):c.1565A>C

HGVS:

• NC_000019.10:g.38455359A>C
• NG_008866.1:g.26660A>C
• NM_000540.3:c.1565A>CMANE SELECT
• NM_001042723.2:c.1565A>C
• NP_000531.2:p.Tyr522Ser
• NP_000531.2:p.Tyr522Ser
• NP_001036188.1:p.Tyr522Ser
• LRG_766t1:c.1565A>C
• LRG_766:g.26660A>C
• LRG_766p1:p.Tyr522Ser
• NC_000019.9:g.38945999A>C
• NM_000540.2:c.1565A>C
• P21817:p.Tyr522Ser
• p.(Tyr522Ser)

This HGVS expression did not pass validation

Protein change:

Y522S; TYR522SER

Links:

PharmGKB: 1183705773PA164749136; PharmGKB: 1183705773PA449461; PharmGKB: 1183705773PA449845; PharmGKB: 1183705773PA450106; PharmGKB: 1183705773PA450434; PharmGKB: 1183705773PA451341; PharmGKB: 1183705773PA451522; UniProtKB: P21817#VAR_005595; OMIM: 180901.0031; dbSNP: rs118192162

NCBI 1000 Genomes Browser:

rs118192162

Molecular consequence:

• NM_000540.3:c.1565A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.1565A>C - missense variant - [Sequence Ontology: SO:0001583]