ClinVar

NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38496475 (on Assembly GRCh38)
• Chr19: 38987115 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)

HGVS:

• NC_000019.10:g.38496475C>T
• NG_008866.1:g.67776C>T
• NM_000540.3:c.6730C>TMANE SELECT
• NM_001042723.2:c.6730C>T
• NP_000531.2:p.Arg2244Trp
• NP_000531.2:p.Arg2244Trp
• NP_001036188.1:p.Arg2244Trp
• LRG_766t1:c.6730C>T
• LRG_766:g.67776C>T
• LRG_766p1:p.Arg2244Trp
• NC_000019.9:g.38987115C>T
• NM_000540.2:c.6730C>T

This HGVS expression did not pass validation

Protein change:

R2244W

Links:

dbSNP: rs772753793

NCBI 1000 Genomes Browser:

rs772753793

Molecular consequence:

• NM_000540.3:c.6730C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.6730C>T - missense variant - [Sequence Ontology: SO:0001583]