Variant #0000846721 (NC_000023.10:g.53231107G>A, KDM5C(NM_004187.3):c.1795C>T)

Individual ID 00408285
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.53231107G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID KDM5C_000116 See all 2 reported entries
Variant remarks -
Reference Leonardi 2022, submitted
ClinVar ID VCV000559937
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation XCI skewed (86%/14%)
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Emanuela Leonardi
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Emanuela Leonardi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM5C NM_004187.3 +/. 13 c.1795C>T r.(?) p.(Arg599Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000409541 DNA SEQ-NG-IT - Gene panel - 1 Emanuela Leonardi