ClinVar

NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38584986 (on Assembly GRCh38)
• Chr19: 39075626 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)

HGVS:

• NC_000019.10:g.38584986G>T
• NG_008866.1:g.156287G>T
• NM_000540.3:c.14690G>TMANE SELECT
• NM_001042723.2:c.14675G>T
• NP_000531.2:p.Gly4897Val
• NP_000531.2:p.Gly4897Val
• NP_001036188.1:p.Gly4892Val
• LRG_766t1:c.14690G>T
• LRG_766:g.156287G>T
• LRG_766p1:p.Gly4897Val
• NC_000019.9:g.39075626G>T
• NM_000540.2:c.14690G>T
• NP_000531.2:p.G4897V
• P21817:p.Gly4897Val
• p.(Gly4897Val)

This HGVS expression did not pass validation

Protein change:

G4892V

Links:

UniProtKB: P21817#VAR_045770; dbSNP: rs118192148

NCBI 1000 Genomes Browser:

rs118192148

Molecular consequence:

• NM_000540.3:c.14690G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14675G>T - missense variant - [Sequence Ontology: SO:0001583]