ClinVar

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38573248 (on Assembly GRCh38)
• Chr19: 39063888 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

HGVS:

• NC_000019.10:g.38573248G>A
• NG_008866.1:g.144549G>A
• NM_000540.3:c.14070G>AMANE SELECT
• NM_001042723.2:c.14055G>A
• NP_000531.2:p.Thr4690=
• NP_000531.2:p.Thr4690=
• NP_001036188.1:p.Thr4685=
• LRG_766t1:c.14070G>A
• LRG_766:g.144549G>A
• LRG_766p1:p.Thr4690=
• NC_000019.9:g.39063888G>A
• NM_000540.2:c.14070G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs113058779

NCBI 1000 Genomes Browser:

rs113058779

Molecular consequence:

• NM_000540.3:c.14070G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042723.2:c.14055G>A - synonymous variant - [Sequence Ontology: SO:0001819]