ClinVar

NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38577942 (on Assembly GRCh38)
• Chr19: 39068582 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp)

Other names:

NM_000540.2(RYR1):c.14197T>G; p.Tyr4733Asp

HGVS:

• NC_000019.10:g.38577942T>G
• NG_008866.1:g.149243T>G
• NM_000540.3:c.14197T>GMANE SELECT
• NM_001042723.2:c.14182T>G
• NP_000531.2:p.Tyr4733Asp
• NP_000531.2:p.Tyr4733Asp
• NP_001036188.1:p.Tyr4728Asp
• LRG_766t1:c.14197T>G
• LRG_766:g.149243T>G
• LRG_766p1:p.Tyr4733Asp
• NC_000019.9:g.39068582T>G
• NM_000540.2:c.14197T>G
• p.(Tyr4733Asp)

This HGVS expression did not pass validation

Protein change:

Y4728D

Links:

dbSNP: rs193922865

NCBI 1000 Genomes Browser:

rs193922865

Molecular consequence:

• NM_000540.3:c.14197T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.14182T>G - missense variant - [Sequence Ontology: SO:0001583]