ClinVar

NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38580057 (on Assembly GRCh38)
• Chr19: 39070697 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)

HGVS:

• NC_000019.10:g.38580057C>T
• NG_008866.1:g.151358C>T
• NM_000540.3:c.14440C>TMANE SELECT
• NM_001042723.2:c.14425C>T
• NP_000531.2:p.Leu4814Phe
• NP_000531.2:p.Leu4814Phe
• NP_001036188.1:p.Leu4809Phe
• LRG_766t1:c.14440C>T
• LRG_766:g.151358C>T
• LRG_766p1:p.Leu4814Phe
• NC_000019.9:g.39070697C>T
• NM_000540.2:c.14440C>T
• NP_000531.2:p.L4814F
• P21817:p.Leu4814Phe
• p.(Leu4814Phe)

This HGVS expression did not pass validation

Protein change:

L4809F

Links:

UniProtKB: P21817#VAR_045753; dbSNP: rs118192142

NCBI 1000 Genomes Browser:

rs118192142

Molecular consequence:

• NM_000540.3:c.14440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14425C>T - missense variant - [Sequence Ontology: SO:0001583]