ClinVar

NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38573304 (on Assembly GRCh38)
• Chr19: 39063944 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)

Other names:

NM_000540.3(RYR1):c.14126C>T

HGVS:

• NC_000019.10:g.38573304C>T
• NG_008866.1:g.144605C>T
• NM_000540.3:c.14126C>TMANE SELECT
• NM_001042723.2:c.14111C>T
• NP_000531.2:p.Thr4709Met
• NP_000531.2:p.Thr4709Met
• NP_001036188.1:p.Thr4704Met
• LRG_766t1:c.14126C>T
• LRG_766:g.144605C>T
• LRG_766p1:p.Thr4709Met
• NC_000019.9:g.39063944C>T
• NM_000540.2:c.14126C>T
• NP_000531.2:p.T4709M

This HGVS expression did not pass validation

Protein change:

T4704M

Links:

dbSNP: rs118192140

NCBI 1000 Genomes Browser:

rs118192140

Molecular consequence:

• NM_000540.3:c.14126C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14111C>T - missense variant - [Sequence Ontology: SO:0001583]