ClinVar

NM_000540.3(RYR1):c.4988C>G (p.Ser1663Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38485643 (on Assembly GRCh38)
• Chr19: 38976283 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.4988C>G (p.Ser1663Trp)

HGVS:

• NC_000019.10:g.38485643C>G
• NG_008866.1:g.56944C>G
• NM_000540.3:c.4988C>GMANE SELECT
• NM_001042723.2:c.4988C>G
• NP_000531.2:p.Ser1663Trp
• NP_000531.2:p.Ser1663Trp
• NP_001036188.1:p.Ser1663Trp
• LRG_766t1:c.4988C>G
• LRG_766:g.56944C>G
• LRG_766p1:p.Ser1663Trp
• NC_000019.9:g.38976283C>G
• NM_000540.2:c.4988C>G

This HGVS expression did not pass validation

Protein change:

S1663W

Molecular consequence:

• NM_000540.3:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1