ClinVar

NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38499639 (on Assembly GRCh38)
• Chr19: 38990279 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp)

Other names:

NM_000540.2(RYR1):c.7032G>C

HGVS:

• NC_000019.10:g.38499639G>C
• NG_008866.1:g.70940G>C
• NM_000540.3:c.7032G>CMANE SELECT
• NM_001042723.2:c.7032G>C
• NP_000531.2:p.Glu2344Asp
• NP_000531.2:p.Glu2344Asp
• NP_001036188.1:p.Glu2344Asp
• LRG_766t1:c.7032G>C
• LRG_766:g.70940G>C
• LRG_766p1:p.Glu2344Asp
• NC_000019.9:g.38990279G>C
• NM_000540.2:c.7032G>C
• P21817:p.Glu2344Asp
• p.(Glu2344Asp)

This HGVS expression did not pass validation

Protein change:

E2344D

Links:

UniProtKB: P21817#VAR_045717; dbSNP: rs193922798

NCBI 1000 Genomes Browser:

rs193922798

Molecular consequence:

• NM_000540.3:c.7032G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7032G>C - missense variant - [Sequence Ontology: SO:0001583]