ClinVar

NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38444623 (on Assembly GRCh38)
• Chr19: 38935263 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)

Other names:

NM_000540.3(RYR1):c.577T>A; p.Ser193Thr

HGVS:

• NC_000019.10:g.38444623T>A
• NG_008866.1:g.15924T>A
• NM_000540.3:c.577T>AMANE SELECT
• NM_001042723.2:c.577T>A
• NP_000531.2:p.Ser193Thr
• NP_000531.2:p.Ser193Thr
• NP_001036188.1:p.Ser193Thr
• LRG_766t1:c.577T>A
• LRG_766:g.15924T>A
• LRG_766p1:p.Ser193Thr
• NC_000019.9:g.38935263T>A
• NM_000540.2:c.577T>A

This HGVS expression did not pass validation

Protein change:

S193T

Links:

dbSNP: rs886054379

Molecular consequence:

• NM_000540.3:c.577T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.577T>A - missense variant - [Sequence Ontology: SO:0001583]