Variant #0000694220 (NC_000023.10:g.53231107G>A, KDM5C(NM_004187.3):c.1795C>T)

Individual ID 00311446
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
DNA change (genomic) (Relative to hg19 / GRCh37) g.53231107G>A
DNA change (hg38) g.53201925G>A
Published as -
ISCN -
DB-ID KDM5C_000116 See all 2 reported entries
Variant remarks -
Reference PubMed: Faundes 2018
ClinVar ID -
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 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.1795C>T r.(?) p.(Arg599Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312616 DNA SEQ;SEQ-NG - WES KDM5C 1 Johan den Dunnen