Variant #0000285782 (NC_000023.10:g.53230860C>A, KDM5C(NM_004187.3):c.1933G>T)

Chromosome X
Allele Unknown
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.53230860C>A
DNA change (hg38) g.53201678C>A
Published as KDM5C(NM_004187.4):c.1933G>T (p.E645*)
ISCN -
DB-ID KDM5C_000046
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM5C NM_004187.3 +/. - c.1933G>T r.(?) p.(Glu645Ter)