ClinVar

NM_000540.3(RYR1):c.14578T>G (p.Phe4860Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38580436 (on Assembly GRCh38)
• Chr19: 39071076 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14578T>G (p.Phe4860Val)

HGVS:

• NC_000019.10:g.38580436T>G
• NG_008866.1:g.151737T>G
• NM_000540.3:c.14578T>GMANE SELECT
• NM_001042723.2:c.14563T>G
• NP_000531.2:p.Phe4860Val
• NP_000531.2:p.Phe4860Val
• NP_001036188.1:p.Phe4855Val
• LRG_766t1:c.14578T>G
• LRG_766:g.151737T>G
• LRG_766p1:p.Phe4860Val
• NC_000019.9:g.39071076T>G
• NM_000540.2:c.14578T>G

This HGVS expression did not pass validation

Protein change:

F4855V

Links:

dbSNP: rs193922881

NCBI 1000 Genomes Browser:

rs193922881

Molecular consequence:

• NM_000540.3:c.14578T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14563T>G - missense variant - [Sequence Ontology: SO:0001583]