ClinVar

NM_000540.3(RYR1):c.13093G>T (p.Gly4365Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38565427 (on Assembly GRCh38)
• Chr19: 39056067 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.13093G>T (p.Gly4365Cys)

HGVS:

• NC_000019.10:g.38565427G>T
• NG_008866.1:g.136728G>T
• NM_000540.3:c.13093G>TMANE SELECT
• NM_001042723.2:c.13078G>T
• NP_000531.2:p.Gly4365Cys
• NP_001036188.1:p.Gly4360Cys
• LRG_766t1:c.13093G>T
• LRG_766:g.136728G>T
• NC_000019.9:g.39056067G>T
• NM_000540.2:c.13093G>T

This HGVS expression did not pass validation

Protein change:

G4360C

Links:

dbSNP: rs1973362089

NCBI 1000 Genomes Browser:

rs1973362089

Molecular consequence:

• NM_000540.3:c.13093G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.13078G>T - missense variant - [Sequence Ontology: SO:0001583]