ClinVar

NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 237614298 (on Assembly GRCh38)
• Chr1: 237777598 (on Assembly GRCh37)

Preferred name:

NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)

Other names:

p.E1724K:GAG>AAG

HGVS:

• NC_000001.11:g.237614298G>A
• NG_008799.3:g.577115G>A
• NM_001035.3:c.5170G>AMANE SELECT
• NP_001026.2:p.Glu1724Lys
• LRG_402t1:c.5170G>A
• LRG_402:g.577115G>A
• LRG_402p1:p.Glu1724Lys
• NC_000001.10:g.237777598G>A
• NG_008799.2:g.576897G>A
• NM_001035.2:c.5170G>A

This HGVS expression did not pass validation

Protein change:

E1724K

Links:

dbSNP: rs794728740

NCBI 1000 Genomes Browser:

rs794728740

Molecular consequence:

• NM_001035.3:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]