ClinVar

NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38499667 (on Assembly GRCh38)
• Chr19: 38990307 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)

HGVS:

• NC_000019.10:g.38499667G>A
• NG_008866.1:g.70968G>A
• NM_000540.3:c.7060G>AMANE SELECT
• NM_001042723.2:c.7060G>A
• NP_000531.2:p.Val2354Met
• NP_000531.2:p.Val2354Met
• NP_001036188.1:p.Val2354Met
• LRG_766t1:c.7060G>A
• LRG_766:g.70968G>A
• LRG_766p1:p.Val2354Met
• NC_000019.9:g.38990307G>A
• NC_000019.9:g.38990307G>A
• NM_000540.2(RYR1):c.7060G>A
• NM_000540.2:c.7060G>A
• p.Val2354Met

This HGVS expression did not pass validation

Protein change:

V2354M

Links:

dbSNP: rs746971794

NCBI 1000 Genomes Browser:

rs746971794

Molecular consequence:

• NM_000540.3:c.7060G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7060G>A - missense variant - [Sequence Ontology: SO:0001583]