ClinVar

NM_000540.3(RYR1):c.7615-7G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38502500 (on Assembly GRCh38)
• Chr19: 38993140 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7615-7G>A

HGVS:

• NC_000019.10:g.38502500G>A
• NG_008866.1:g.73801G>A
• NM_000540.3:c.7615-7G>AMANE SELECT
• NM_001042723.2:c.7615-7G>A
• LRG_766t1:c.7615-7G>A
• LRG_766:g.73801G>A
• NC_000019.9:g.38993140G>A
• NM_000540.2:c.7615-7G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs146159174

NCBI 1000 Genomes Browser:

rs146159174

Molecular consequence:

• NM_000540.3:c.7615-7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042723.2:c.7615-7G>A - intron variant - [Sequence Ontology: SO:0001627]