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Gene

CALM1

calmodulin 1

Summary

Cytogenetic location
14q32.11
Coordinates
Chromosome 14: 90,397,029–90,408,268 (GRCh38)
Exons
6 exons across 11.2 kb
Protein
149 amino acids
Also known as
CAMI, PHKD, DD132, PHKD1
Previous symbols
CALML2
MANE Select transcript
ENST00000356978.9NM_006888.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    • Ventricular Tachycardia, Familial

      An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
    • Polymorphic Ventricular Tachycardia

      A ventricular tachycardia that is irregular in rate and rhythm.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

  • Long QT Syndrome

    • A disorder of cardiac repolarisation marked by a prolonged QT interval and a risk of dangerous ventricular arrhythmias such as torsades de pointes.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Beta-blockers, ICD placement, activity restriction, genetic counseling

How CALM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 14, with a bracket where CALM1 sits. CALM1 and 7 genes near it on chromosome 14, from 89,902,649 to 90,902,648.Chromosome 1414q32.11p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3390 Mb90.2 Mb90.4 Mb90.6 Mb90.8 MbEFCAB11: 89,794,669–89,954,777, reverse strandEFCAB11TDP1: 89,954,939–90,044,820, forward strandTDP1KCNK13: 90,061,990–90,185,855, forward strandKCNK13PSMC1: 90,256,506–90,275,429, forward strandPSMC1NRDE2: 90,267,860–90,332,125, reverse strandNRDE2CALM1: 90,397,029–90,408,268, forward strandCALM1TTC7B: 90,524,564–90,816,525, reverse strandTTC7BRPS6KA5: 90,847,861–91,060,685, reverse strandRPS6KA5Diagram of CALM1: 6 exons on the forward strand of chromosome 14Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 1: 90,397,029–90,397,233, 205 basesExon 2: 90,400,065–90,400,095, 31 basesExon 3: 90,401,259–90,401,402, 144 basesExon 4: 90,403,862–90,403,968, 107 basesExon 5: 90,404,379–90,404,514, 136 bases. 1 variant with a page in exon 5. List themExon 6: 90,404,689–90,408,268, 3,580 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.2 kb of the gene's 11.2 kb; 450 of those bases code for the protein.

How a genome test reads CALM1

12

positions in CALM1 where ClinVar classes a change as pathogenic or likely pathogenic

11 of them (92%) fall in regions short reads find hard.

  • Segmental duplications (11 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 11.2 kb of CALM1, introns included, not only the 4.2 kb of exons.

Variants with a page (1)

The CALM1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
N98Sc.293A>GExon 590,404,386Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CALM1 gene: calmodulin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/calm1

Vancouver

Dante Labs. CALM1 gene: calmodulin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/calm1

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