Chromodomain Helicase DNA-Binding Protein 7

Alternative Names

  • CHD7
  • KIAA1416

Associated Diseases

CHARGE Syndrome
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OMIM Number

608892

NCBI Gene ID

55636

Uniprot ID

Q9P2D1

Length

189,289 bases

No. of Exons

42

No. of isoforms

4

Protein Name

Chromodomain-helicase-DNA-binding protein 7

Molecular Mass

335927 Da

Amino Acid Count

2997

Genomic Location

chr8:60,678,740-60,868,028

Gene Map Locus
8q12.2

Description

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017780.3:c.6609delUnited Arab EmiratesNC_000008.11:g.60853334delLikely PathogenicCHARGE SyndromeNG_007009.1:g.179555del; NM_017780.3:c.6609del; NP_060250.2:p.Ser2203ArgfsTer12
NM_017780.3:c.7165-2A>GUnited Arab EmiratesNC_000008.11:g.60856443A>GLikely PathogenicCHARGE SyndromeNG_007009.1:g.182664A>G; NM_017780.3:c.7165-2A>G; NP_060250.2:p.?
NM_017780.4:c.5689G>AUnited Arab EmiratesNC_000008.11:g.60852042G>ABenignBenignNG_007009.1:g.178263G>A; NM_017780.4:c.5689G>A; NP_060250.2:p.Glu1897Lys766110936699851
NM_017780.4:c.6112G>ALebanonchr8:60852837Uncertain SignificanceLikely PathogenicCHARGE SyndromeNG_007009.1:g.179058G>A; NM_017780.4:c.6112G>A; NP_060250.2:p.Asp2038Asn747846723363470
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