Variant #0000117152 (NC_000023.10:g.44929077C>A, NM_021140.2:c.2177C>A (KDM6A))

Individual ID 00073308
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.44929077C>A
DNA change (hg38) g.45069832C>A
Published as -
ISCN -
DB-ID KDM6A_000001
Variant remarks recurrent, found 29 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 29/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.13317 View details
Owner Lucy Raymond
Database submission license No license selected
Created by Lucy Raymond
Date created 2009-04-08 14:04:23 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6A NM_021140.2 ?/. 17 c.2177C>A r.(?) p.(Thr726Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073467 DNA SEQ - - KDM6A 1 Lucy Raymond


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