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Gene

CHD7

chromodomain helicase DNA binding protein 7

Summary

Cytogenetic location
8q12.2
Coordinates
Chromosome 8: 60,678,740–60,868,028 (GRCh38)
Exons
38 exons across 189.3 kb
Protein
2,997 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA1416, FLJ20357, FLJ20361
Previous symbols
CRG
MANE Select transcript
ENST00000423902.7NM_017780.4
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated reports relevant to this gene

  • CHARGE Syndrome

    • Autosomal dominant

      A condition caused by variants in CHD7 that typically includes coloboma of the eye, heart defects, choanal atresia, growth and developmental delay, genital differences and ear anomalies with hearing loss.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides hearing, heart, growth and puberty (hormone) assessment.

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CHD7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CHD7 sits. CHD7 and 3 genes near it on chromosome 8, from 60,273,384 to 61,273,383.Chromosome 88q12.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.360.4 Mb60.6 Mb60.8 Mb61 Mb61.2 MbCA8: 60,185,412–60,281,573, reverse strandCA8RAB2A: 60,516,890–60,624,280, forward strandRAB2ACHD7: 60,678,740–60,868,028, forward strandCHD7CLVS1: 61,057,158–61,501,645, forward strandCLVS1Diagram of CHD7: 38 exons on the forward strand of chromosome 8Exon 2: 80 known disease-causing sitesExon 3: 29 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 16 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 12 known disease-causing sitesExon 12: 15 known disease-causing sitesExon 13: 13 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 15: 15 known disease-causing sitesExon 16: 13 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 18: 10 known disease-causing sitesExon 19: 10 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 21: 13 known disease-causing sitesExon 22: 19 known disease-causing sitesExon 23: 9 known disease-causing sitesExon 24: 5 known disease-causing sitesExon 25: 9 known disease-causing sitesExon 26: 13 known disease-causing sitesExon 27: 2 known disease-causing sitesExon 28: 5 known disease-causing sitesExon 29: 11 known disease-causing sitesExon 30: 16 known disease-causing sitesExon 31: 45 known disease-causing sitesExon 32: 7 known disease-causing sitesExon 33: 5 known disease-causing sitesExon 34: 27 known disease-causing sitesExon 35: 15 known disease-causing sitesExon 36: 9 known disease-causing sitesExon 37: 9 known disease-causing sitesExon 38: 17 known disease-causing sitesExon 1: 60,678,740–60,679,082, 343 basesExon 2: 60,741,259–60,743,097, 1,839 basesExon 3: 60,781,000–60,781,430, 431 basesExon 4: 60,794,986–60,795,127, 142 basesExon 5: 60,800,388–60,800,525, 138 basesExon 6: 60,801,528–60,801,593, 66 basesExon 7: 60,808,217–60,808,272, 56 basesExon 8: 60,816,387–60,816,501, 115 basesExon 9: 60,820,007–60,820,090, 84 basesExon 10: 60,821,790–60,821,927, 138 basesExon 11: 60,822,024–60,822,145, 122 basesExon 12: 60,822,503–60,822,746, 244 basesExon 13: 60,823,840–60,824,016, 177 basesExon 14: 60,828,663–60,828,806, 144 basesExon 15: 60,830,322–60,830,577, 256 basesExon 16: 60,836,073–60,836,283, 211 basesExon 17: 60,836,817–60,837,012, 196 basesExon 18: 60,837,668–60,837,835, 168 basesExon 19: 60,838,076–60,838,255, 180 basesExon 20: 60,841,644–60,841,754, 111 basesExon 21: 60,841,847–60,842,052, 206 basesExon 22: 60,844,864–60,845,063, 200 basesExon 23: 60,845,250–60,845,409, 160 basesExon 24: 60,848,515–60,848,604, 90 basesExon 25: 60,849,051–60,849,154, 104 basesExon 26: 60,850,493–60,850,622, 130 basesExon 27: 60,851,032–60,851,104, 73 basesExon 28: 60,851,262–60,851,319, 58 basesExon 29: 60,852,019–60,852,247, 229 basesExon 30: 60,852,498–60,852,706, 209 basesExon 31: 60,852,829–60,853,500, 672 basesExon 32: 60,854,363–60,854,523, 161 basesExon 33: 60,855,975–60,856,202, 228 basesExon 34: 60,856,445–60,856,888, 444 basesExon 35: 60,860,904–60,861,125, 222 basesExon 36: 60,862,196–60,862,336, 141 basesExon 37: 60,862,548–60,862,652, 105 basesExon 38: 60,865,016–60,868,028, 3,013 bases1102030385′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 11.6 kb of the gene's 189.3 kb; 8,994 of those bases code for the protein.

How a genome test reads CHD7

585

positions in CHD7 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 189.3 kb of CHD7, introns included, not only the 11.6 kb of exons.

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.). CHD7 gene: chromodomain helicase DNA binding protein 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/chd7

Vancouver

Dante Labs. CHD7 gene: chromodomain helicase DNA binding protein 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chd7

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