HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001319138.1:c.-241-34C>T
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001306067.1:p.?
Predicted effect on protein (:p.) NP_001306067.1:p.?
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000020.10:g.34025983A= GRCh37:20:34025983:A:A
NC_000020.11:g.35438203G>A GRCh38:20:35438203: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 No RefSeqGene record corresponding to transcript NM_001319138.1
Chromosomal GRCh38 NC_000020.11:g.35438203G>A

Transcript description(s)

Reference sequence type Variant description
RefSeqGene No RefSeqGene record corresponding to transcript NM_001319138.1
Chromosomal GRCh38 NC_000020.11(NM_001319138.1):c.-241-34C>T

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

  • No RefSeqGene has been created for the GDF5 gene;
  • Or, Transcript NM_001319138.1 has not been annotated in the RefSeqGene record for the GDF5 gene

Transcript-level variants overlapping genome coordinates NC_000020.11:35438203


Genomic coordinates (VCF) with respect to genome build GRCh38

20-35438203-G-A


Aggregated data sources and clinical significance

VariantValidator

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