Variant #0000036904 (NC_000023.10:g.53230747del, KDM5C(NM_004187.3):c.2047del)

Individual ID 00017016
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.53230747del
DNA change (hg38) g.53201565del
Published as -
ISCN -
DB-ID KDM5C_000013
Variant remarks healthy mother skewed X-inactivation (98:2).
Reference PubMed: Tzschach 2015
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 Andreas Tzschach
Database submission license No license selected
Created by Andreas Tzschach
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM5C NM_004187.3 +/. 14 c.2047del r.(?) p.(Ala683Profs*81)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016993 DNA SEQ - - KDM5C 1 Andreas Tzschach