ClinVar

NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38572221 (on Assembly GRCh38)
• Chr19: 39062861 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)

HGVS:

• NC_000019.10:g.38572221T>C
• NG_008866.1:g.143522T>C
• NM_000540.3:c.13949T>CMANE SELECT
• NM_001042723.2:c.13934T>C
• NP_000531.2:p.Leu4650Pro
• NP_000531.2:p.Leu4650Pro
• NP_001036188.1:p.Leu4645Pro
• LRG_766t1:c.13949T>C
• LRG_766:g.143522T>C
• LRG_766p1:p.Leu4650Pro
• NC_000019.9:g.39062861T>C
• NM_000540.2:c.13949T>C
• P21817:p.Leu4650Pro
• p.(Leu4650Pro)
• p.L4650P

This HGVS expression did not pass validation

Protein change:

L4645P

Links:

UniProtKB: P21817#VAR_045744; dbSNP: rs118192138

NCBI 1000 Genomes Browser:

rs118192138

Molecular consequence:

• NM_000540.3:c.13949T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.13934T>C - missense variant - [Sequence Ontology: SO:0001583]