ClinVar

NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38486093 (on Assembly GRCh38)
• Chr19: 38976733 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)

HGVS:

• NC_000019.10:g.38486093G>T
• NG_008866.1:g.57394G>T
• NM_000540.3:c.5438G>TMANE SELECT
• NM_001042723.2:c.5438G>T
• NP_000531.2:p.Arg1813Met
• NP_000531.2:p.Arg1813Met
• NP_001036188.1:p.Arg1813Met
• LRG_766t1:c.5438G>T
• LRG_766:g.57394G>T
• LRG_766p1:p.Arg1813Met
• NC_000019.9:g.38976733G>T
• NM_000540.2:c.5438G>T

This HGVS expression did not pass validation

Protein change:

R1813M

Links:

dbSNP: rs886054389

NCBI 1000 Genomes Browser:

rs886054389

Molecular consequence:

• NM_000540.3:c.5438G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.5438G>T - missense variant - [Sequence Ontology: SO:0001583]