ClinVar

NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38584974 (on Assembly GRCh38)
• Chr19: 39075614 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)

HGVS:

• NC_000019.10:g.38584974G>C
• NG_008866.1:g.156275G>C
• NM_000540.3:c.14678G>CMANE SELECT
• NM_001042723.2:c.14663G>C
• NP_000531.2:p.Arg4893Pro
• NP_000531.2:p.Arg4893Pro
• NP_001036188.1:p.Arg4888Pro
• LRG_766t1:c.14678G>C
• LRG_766:g.156275G>C
• LRG_766p1:p.Arg4893Pro
• NC_000019.9:g.39075614G>C
• NM_000540.2:c.14678G>C
• NP_000531.2:p.R4893P
• p.(Arg4893Pro)

This HGVS expression did not pass validation

Protein change:

R4888P

Links:

dbSNP: rs118192151

NCBI 1000 Genomes Browser:

rs118192151

Molecular consequence:

• NM_000540.3:c.14678G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14663G>C - missense variant - [Sequence Ontology: SO:0001583]