ClinVar

NM_000540.3(RYR1):c.7863_7864delinsTT (p.His2621_Leu2622=)

Gene:

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

Variant type:

Indel

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38502907 - 38502908 (on Assembly GRCh38)
• Chr19: 38993547 - 38993548 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.7863_7864delinsTT (p.His2621_Leu2622=)

HGVS:

• NC_000019.10:g.38502907_38502908delinsTT
• NG_008866.1:g.74208_74209delinsTT
• NM_000540.3:c.7863_7864delinsTTMANE SELECT
• NM_001042723.2:c.7863_7864delinsTT
• NP_000531.2:p.His2621_Leu2622=
• NP_000531.2:p.His2621_Leu2622=
• NP_001036188.1:p.His2621_Leu2622=
• LRG_766t1:c.7863_7864delCCinsTT
• LRG_766:g.74208_74209delinsTT
• LRG_766p1:p.His2621_Leu2622=
• NC_000019.9:g.38993547_38993548delCCinsTT
• NC_000019.9:g.38993547_38993548delinsTT
• NC_000019.9:g.38993547_38993548delinsTT
• NM_000540.2:c.7863_7864delCCinsTT

This HGVS expression did not pass validation

Links:

dbSNP: rs1600837712

NCBI 1000 Genomes Browser:

rs1600837712

Molecular consequence:

• NM_000540.3:c.7863_7864delinsTT - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042723.2:c.7863_7864delinsTT - synonymous variant - [Sequence Ontology: SO:0001819]