Variant #0000408034 (NC_000023.10:g.53239744del, KDM5C(NM_004187.3):c.1599del)

Individual ID 00183107
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.53239744del
DNA change (hg38) g.53210562del
Published as KDM5C W534Gfs*15
ISCN -
DB-ID KDM5C_000074
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM5C NM_004187.3 ./. - c.1599del r.(?) p.(Trp534Glyfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184065 DNA SEQ;SEQ-NG - WES-X chromosome KDM5C 1 Johan den Dunnen