Variant #0000660587 (NC_000023.10:g.53228250C>G, KDM5C(NM_004187.3):c.2152G>C)

Individual ID 00296777
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.53228250C>G
DNA change (hg38) g.53199068C>G
Published as -
ISCN -
DB-ID KDM5C_000105
Variant remarks -
Reference PubMed: Redin 2014
ClinVar ID -
dbSNP ID -
Origin De novo
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.2152G>C r.(?) p.(Ala718Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297887 DNA SEQ;SEQ-NG - 232-gene ID panel KDM5C 1 Johan den Dunnen