ClinVar

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38444167 (on Assembly GRCh38)
• Chr19: 38934807 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

HGVS:

• NC_000019.10:g.38444167C>T
• NG_008866.1:g.15468C>T
• NM_000540.3:c.443C>TMANE SELECT
• NM_001042723.2:c.443C>T
• NP_000531.2:p.Thr148Ile
• NP_000531.2:p.Thr148Ile
• NP_001036188.1:p.Thr148Ile
• LRG_766t1:c.443C>T
• LRG_766:g.15468C>T
• LRG_766p1:p.Thr148Ile
• NC_000019.9:g.38934807C>T
• NM_000540.2:c.443C>T

This HGVS expression did not pass validation

Protein change:

T148I

Links:

dbSNP: rs151325948

NCBI 1000 Genomes Browser:

rs151325948

Molecular consequence:

• NM_000540.3:c.443C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.443C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1