ClinVar

NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38502527 (on Assembly GRCh38)
• Chr19: 38993167 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)

HGVS:

• NC_000019.10:g.38502527G>C
• NG_008866.1:g.73828G>C
• NM_000540.3:c.7635G>CMANE SELECT
• NM_001042723.2:c.7635G>C
• NP_000531.2:p.Glu2545Asp
• NP_000531.2:p.Glu2545Asp
• NP_001036188.1:p.Glu2545Asp
• LRG_766t1:c.7635G>C
• LRG_766:g.73828G>C
• LRG_766p1:p.Glu2545Asp
• NC_000019.9:g.38993167G>C
• NM_000540.2:c.7635G>C
• p.(Glu2545Asp)
• p.E2545D

This HGVS expression did not pass validation

Protein change:

E2545D

Links:

dbSNP: rs193922820

NCBI 1000 Genomes Browser:

rs193922820

Molecular consequence:

• NM_000540.3:c.7635G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7635G>C - missense variant - [Sequence Ontology: SO:0001583]