ClinVar

NM_000540.3(RYR1):c.14913G>A (p.Thr4971=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38586135 (on Assembly GRCh38)
• Chr19: 39076775 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14913G>A (p.Thr4971=)

HGVS:

• NC_000019.10:g.38586135G>A
• NG_008866.1:g.157436G>A
• NM_000540.3:c.14913G>AMANE SELECT
• NM_001042723.2:c.14898G>A
• NP_000531.2:p.Thr4971=
• NP_001036188.1:p.Thr4966=
• LRG_766:g.157436G>A
• NC_000019.9:g.39076775G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs376180682

NCBI 1000 Genomes Browser:

rs376180682

Molecular consequence:

• NM_000540.3:c.14913G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042723.2:c.14898G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1