ClinVar

NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38523111 (on Assembly GRCh38)
• Chr19: 39013751 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)

Other names:

S3450F

HGVS:

• NC_000019.10:g.38523111C>T
• NG_008866.1:g.94412C>T
• NM_000540.3:c.10343C>TMANE SELECT
• NM_001042723.2:c.10343C>T
• NP_000531.2:p.Ser3448Phe
• NP_000531.2:p.Ser3448Phe
• NP_001036188.1:p.Ser3448Phe
• LRG_766t1:c.10343C>T
• LRG_766:g.94412C>T
• LRG_766p1:p.Ser3448Phe
• NC_000019.9:g.39013751C>T
• NM_000540.2:c.10343C>T

This HGVS expression did not pass validation

Protein change:

S3448F; SER3450PHE

Links:

OMIM: 180901.0029; dbSNP: rs193922836

NCBI 1000 Genomes Browser:

rs193922836

Molecular consequence:

• NM_000540.3:c.10343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.10343C>T - missense variant - [Sequence Ontology: SO:0001583]