H4C3

H4 clustered histone 3

Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

Known Variants29 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7710766516:26,104,183G/C—uncertain significance
rs5681252596:26,104,187C/T—likely benign
rs7676790496:26,104,188G/T—uncertain significance
rs12174537746:26,104,196C/A—likely benign
rs17631911706:26,104,198G/C—uncertain significance
rs7549193106:26,104,209G/T—uncertain significance
rs1470570536:26,104,217T/C—benign
rs7525282976:26,104,261G/A—uncertain significance
rs21137842826:26,104,273C/T—pathogenic
rs24816561356:26,104,279T/C—uncertain significance
rs22297686:26,104,280C/T—benign
rs14555116736:26,104,308A/T—uncertain significance
rs24816562856:26,104,311C/A—likely pathogenic
rs7564023786:26,104,331T/C—likely benign
rs24816563656:26,104,338A/G—uncertain significance
rs5502102456:26,104,344G/A—uncertain significance
rs772293166:26,104,355G/A—benign
rs1418880216:26,104,361C/G—uncertain significance
rs22297676:26,104,382C/T—benign
rs13910195646:26,104,396C/A—uncertain significance
rs14026131536:26,104,435T/C—uncertain significance
rs1444697146:26,104,443G/T—uncertain significance
rs1379468586:26,104,445C/T—likely benign
rs617356816:26,104,446C/T—benign
rs1988526:26,104,448A/G—benign
rs17632000036:26,104,449A/C—pathogenic
rs21137846306:26,104,450A/G—likely pathogenic
rs24816568266:26,104,472T/G—likely pathogenic
rs11783439296:26,104,480G/A—likely pathogenic

Gene information from NCBI Gene. Variant classifications from ClinVar.