ClinVar

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38543420 (on Assembly GRCh38)
• Chr19: 39034060 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

HGVS:

• NC_000019.10:g.38543420C>A
• NG_008866.1:g.114721C>A
• NM_000540.3:c.11763C>AMANE SELECT
• NM_001042723.2:c.11748C>A
• NP_000531.2:p.Tyr3921Ter
• NP_000531.2:p.Tyr3921Ter
• NP_001036188.1:p.Tyr3916Ter
• LRG_766t1:c.11763C>A
• LRG_766:g.114721C>A
• LRG_766p1:p.Tyr3921Ter
• NC_000019.9:g.39034060C>A
• NM_000540.2:c.11763C>A
• NM_000540.3:c.11763C>A

This HGVS expression did not pass validation

Protein change:

Y3916*

Links:

dbSNP: rs377178986

NCBI 1000 Genomes Browser:

rs377178986

Molecular consequence:

• NM_000540.3:c.11763C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042723.2:c.11748C>A - nonsense - [Sequence Ontology: SO:0001587]