ClinVar

NM_000540.3(RYR1):c.7028-17C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38499618 (on Assembly GRCh38)
• Chr19: 38990258 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7028-17C>T

HGVS:

• NC_000019.10:g.38499618C>T
• NG_008866.1:g.70919C>T
• NM_000540.3:c.7028-17C>TMANE SELECT
• NM_001042723.2:c.7028-17C>T
• LRG_766:g.70919C>T
• NC_000019.9:g.38990258C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs772127119

NCBI 1000 Genomes Browser:

rs772127119

Molecular consequence:

• NM_000540.3:c.7028-17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042723.2:c.7028-17C>T - intron variant - [Sequence Ontology: SO:0001627]