ClinVar

NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly)

Genes:

LOC130064357:ATAC-STARR-seq lymphoblastoid silent region 10577 [Gene]
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38565647 (on Assembly GRCh38)
• Chr19: 39056287 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly)

HGVS:

• NC_000019.10:g.38565647T>G
• NG_008866.1:g.136948T>G
• NM_000540.3:c.13313T>GMANE SELECT
• NM_001042723.2:c.13298T>G
• NP_000531.2:p.Val4438Gly
• NP_000531.2:p.Val4438Gly
• NP_001036188.1:p.Val4433Gly
• LRG_766t1:c.13313T>G
• LRG_766:g.136948T>G
• LRG_766p1:p.Val4438Gly
• NC_000019.9:g.39056287T>G
• NM_000540.2:c.13313T>G

This HGVS expression did not pass validation

Protein change:

V4433G

Links:

dbSNP: rs1328605630

NCBI 1000 Genomes Browser:

rs1328605630

Molecular consequence:

• NM_000540.3:c.13313T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042723.2:c.13298T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1