ClinVar

NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38502948 (on Assembly GRCh38)
• Chr19: 38993588 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)

HGVS:

• NC_000019.10:g.38502948A>T
• NG_008866.1:g.74249A>T
• NM_000540.3:c.7904A>TMANE SELECT
• NM_001042723.2:c.7904A>T
• NP_000531.2:p.Glu2635Val
• NP_000531.2:p.Glu2635Val
• NP_001036188.1:p.Glu2635Val
• LRG_766t1:c.7904A>T
• LRG_766:g.74249A>T
• LRG_766p1:p.Glu2635Val
• NC_000019.9:g.38993588A>T
• NM_000540.2:c.7904A>T

This HGVS expression did not pass validation

Protein change:

E2635V

Links:

dbSNP: rs755651622

NCBI 1000 Genomes Browser:

rs755651622

Molecular consequence:

• NM_000540.3:c.7904A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.7904A>T - missense variant - [Sequence Ontology: SO:0001583]