All variants in the KDM5C gene

Information The variants shown are described using the NM_004187.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.2120G>A r.(?) p.(Cys707Tyr) - pathogenic g.53228282C>T - NM_001146702:c.1919G>A - KDM5C_000121 - PubMed: Vissers 2010 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query