ClinVar

NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38499743 (on Assembly GRCh38)
• Chr19: 38990383 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)

HGVS:

• NC_000019.10:g.38499743C>A
• NG_008866.1:g.71044C>A
• NM_000540.3:c.7136C>AMANE SELECT
• NM_001042723.2:c.7136C>A
• NP_000531.2:p.Ala2379Asp
• NP_000531.2:p.Ala2379Asp
• NP_001036188.1:p.Ala2379Asp
• LRG_766t1:c.7136C>A
• LRG_766:g.71044C>A
• LRG_766p1:p.Ala2379Asp
• NC_000019.9:g.38990383C>A
• NM_000540.2:c.7136C>A

This HGVS expression did not pass validation

Protein change:

A2379D

Links:

dbSNP: rs886054394

NCBI 1000 Genomes Browser:

rs886054394

Molecular consequence:

• NM_000540.3:c.7136C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7136C>A - missense variant - [Sequence Ontology: SO:0001583]