ClinVar

NM_000540.3(RYR1):c.11778G>A (p.Gln3926=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38543435 (on Assembly GRCh38)
• Chr19: 39034075 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.11778G>A (p.Gln3926=)

Other names:

r.[11778g>a,11778g>a; 11778_11779ins11778+1_11778+22]

HGVS:

• NC_000019.10:g.38543435G>A
• NG_008866.1:g.114736G>A
• NM_000540.3:c.11778G>AMANE SELECT
• NM_001042723.2:c.11763G>A
• NP_000531.2:p.Gln3926=
• NP_000531.2:p.Gln3926=
• NP_001036188.1:p.Gln3921=
• LRG_766t1:c.11778G>A
• LRG_766:g.114736G>A
• LRG_766p1:p.Gln3926=
• NC_000019.9:g.39034075G>A
• NM_000540.2:c.11778G>A
• p.Val3927Glufs*4"

This HGVS expression did not pass validation

Links:

dbSNP: rs193922841

NCBI 1000 Genomes Browser:

rs193922841

Molecular consequence:

• NM_000540.3:c.11778G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042723.2:c.11763G>A - synonymous variant - [Sequence Ontology: SO:0001819]