HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001042723.1:c.14567G>A
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001036188.1:p.(Arg4856His)
Predicted effect on protein (:p.) NP_001036188.1:p.(R4856H)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000019.10:g.38580440G>A GRCh38:19:38580440:G:A
NC_000019.9:g.39071080G>A GRCh37:19:39071080:G:A

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene RefSeqGene record not available
Chromosomal GRCh38 NC_000019.10:g.38580440G>A

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_001042723.1:c.14567G>A

Unable to provide variant descriptions with respect to the RefSeqGene sequence because:

  • No RefSeqGene has been created for the RYR1 gene;
  • Or, Transcript NM_001042723.1 has not been annotated in the RefSeqGene record for the RYR1 gene

Transcript-level variants overlapping genome coordinates NC_000019.10:38580440


Genomic coordinates (VCF) with respect to genome build GRCh38

19-38580440-G-A


Aggregated data sources and clinical significance

VariantValidator

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