Variant #0000338121 (NC_000023.10:g.44918491G>A, NC_000023.10(NM_021140.2):c.975-1G>A (KDM6A))

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.44918491G>A
DNA change (hg38) g.45059246G>A
Published as -
ISCN -
DB-ID KDM6A_000055
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-19 19:39:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6A NM_021140.2 +/. - c.975-1G>A r.spl? p.?


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