ClinVar

NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter)

Genes:

LOC129391106:MPRA-validated peak3472 silencer [Gene]
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38455336 (on Assembly GRCh38)
• Chr19: 38945976 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter)

HGVS:

• NC_000019.10:g.38455336G>A
• NG_008866.1:g.26637G>A
• NM_000540.3:c.1542G>AMANE SELECT
• NM_001042723.2:c.1542G>A
• NP_000531.2:p.Trp514Ter
• NP_001036188.1:p.Trp514Ter
• LRG_766:g.26637G>A
• NC_000019.9:g.38945976G>A

This HGVS expression did not pass validation

Protein change:

W514*

Links:

dbSNP: rs1967312937

NCBI 1000 Genomes Browser:

rs1967312937

Molecular consequence:

• NM_000540.3:c.1542G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042723.2:c.1542G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

3