ClinVar

NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38565034 (on Assembly GRCh38)
• Chr19: 39055674 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)

HGVS:

• NC_000019.10:g.38565034G>C
• NG_008866.1:g.136335G>C
• NM_000540.3:c.12700G>CMANE SELECT
• NM_001042723.2:c.12685G>C
• NP_000531.2:p.Val4234Leu
• NP_000531.2:p.Val4234Leu
• NP_001036188.1:p.Val4229Leu
• LRG_766t1:c.12700G>C
• LRG_766:g.136335G>C
• LRG_766p1:p.Val4234Leu
• NC_000019.9:g.39055674G>C
• NC_000019.9:g.39055674G>C
• NM_000540.2(RYR1):c.12700G>C
• NM_000540.2:c.12700G>C
• P21817:p.Val4234Leu
• p.(Val4234Leu)

This HGVS expression did not pass validation

Protein change:

V4229L

Links:

UniProtKB: P21817#VAR_045738; dbSNP: rs193922852

NCBI 1000 Genomes Browser:

rs193922852

Molecular consequence:

• NM_000540.3:c.12700G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.12685G>C - missense variant - [Sequence Ontology: SO:0001583]