ClinVar

NM_000540.3(RYR1):c.6617C>G (p.Thr2206Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38496283 (on Assembly GRCh38)
• Chr19: 38986923 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.6617C>G (p.Thr2206Arg)

HGVS:

• NC_000019.10:g.38496283C>G
• NG_008866.1:g.67584C>G
• NM_000540.3:c.6617C>GMANE SELECT
• NM_001042723.2:c.6617C>G
• NP_000531.2:p.Thr2206Arg
• NP_000531.2:p.Thr2206Arg
• NP_001036188.1:p.Thr2206Arg
• LRG_766t1:c.6617C>G
• LRG_766:g.67584C>G
• LRG_766p1:p.Thr2206Arg
• NC_000019.9:g.38986923C>G
• NM_000540.2:c.6617C>G
• P21817:p.Thr2206Arg
• p.(Thr2206Arg)

This HGVS expression did not pass validation

Protein change:

T2206R

Links:

UniProtKB: P21817#VAR_008973; dbSNP: rs118192177

NCBI 1000 Genomes Browser:

rs118192177

Molecular consequence:

• NM_000540.3:c.6617C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.6617C>G - missense variant - [Sequence Ontology: SO:0001583]