ClinVar

NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38485930 (on Assembly GRCh38)
• Chr19: 38976570 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)

HGVS:

• NC_000019.10:g.38485930C>T
• NG_008866.1:g.57231C>T
• NM_000540.3:c.5275C>TMANE SELECT
• NM_001042723.2:c.5275C>T
• NP_000531.2:p.Arg1759Trp
• NP_000531.2:p.Arg1759Trp
• NP_001036188.1:p.Arg1759Trp
• LRG_766t1:c.5275C>T
• LRG_766:g.57231C>T
• LRG_766p1:p.Arg1759Trp
• NC_000019.9:g.38976570C>T
• NM_000540.2:c.5275C>T

This HGVS expression did not pass validation

Protein change:

R1759W

Links:

dbSNP: rs759566652

NCBI 1000 Genomes Browser:

rs759566652

Molecular consequence:

• NM_000540.3:c.5275C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.5275C>T - missense variant - [Sequence Ontology: SO:0001583]