HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001199180.1:c.2437dup
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001186109.1:p.(Ile813AsnfsTer19)
Predicted effect on protein (:p.) NP_001186109.1:p.(I813Nfs*19)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000003.11:g.130716541dup GRCh37:3:130716537:T:TA
NC_000003.12:g.130997697dup GRCh38:3:130997693:T:TA

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_000003.12:g.130997697dup

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_001199180.1:c.2437dup

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

  • No RefSeqGene has been created for the ATP2C1 gene;
  • Or, Transcript NM_001199180.1 has not been annotated in the RefSeqGene record for the ATP2C1 gene

Transcript-level variants overlapping genome coordinates NC_000003.12:130997697


Genomic coordinates (VCF) with respect to genome build GRCh38

3-130997693-T-TA


Aggregated data sources and clinical significance

VariantValidator

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