ClinVar

NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)

Gene:

RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 237500813 (on Assembly GRCh38)
• Chr1: 237664113 (on Assembly GRCh37)

Preferred name:

NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)

HGVS:

• NC_000001.11:g.237500813G>T
• NG_008799.3:g.463630G>T
• NM_001035.3:c.2306G>TMANE SELECT
• NP_001026.2:p.Arg769Leu
• LRG_402t1:c.2306G>T
• LRG_402:g.463630G>T
• LRG_402p1:p.Arg769Leu
• NC_000001.10:g.237664113G>T
• NG_008799.2:g.463412G>T
• NM_001035.2:c.2306G>T

This HGVS expression did not pass validation

Protein change:

R769L

Links:

dbSNP: rs754901791

NCBI 1000 Genomes Browser:

rs754901791

Molecular consequence:

• NM_001035.3:c.2306G>T - missense variant - [Sequence Ontology: SO:0001583]