ClinVar

NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38580437 (on Assembly GRCh38)
• Chr19: 39071077 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser)

HGVS:

• NC_000019.10:g.38580437T>C
• NG_008866.1:g.151738T>C
• NM_000540.3:c.14579T>CMANE SELECT
• NM_001042723.2:c.14564T>C
• NP_000531.2:p.Phe4860Ser
• NP_001036188.1:p.Phe4855Ser
• LRG_766:g.151738T>C
• NC_000019.9:g.39071077T>C

This HGVS expression did not pass validation

Protein change:

F4855S

Links:

dbSNP: rs1599665128

NCBI 1000 Genomes Browser:

rs1599665128

Molecular consequence:

• NM_000540.3:c.14579T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14564T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1