Variant #0000846717 (NC_000023.10:g.53239750G>A, KDM5C(NM_004187.3):c.1592C>T)

Individual ID 00408281
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (maternal)
DNA change (genomic) (Relative to hg19 / GRCh37) g.53239750G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID KDM5C_000067 See all 2 reported entries
Variant remarks -
Reference Leonardi 2022, submitted
ClinVar ID VCV001209957
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
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 +?/. 12 c.1592C>T r.(?) p.(Pro531Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000409537 DNA SEQ-NG-I - - - 1 Emanuela Leonardi