Variant #0000796989 (NC_000023.10:g.85212937dupT, NM_000390.2:c.? (CHM))

Individual ID 00381793
Chromosome X
Allele Both (homozygous)
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.85212937dupT
DNA change (hg38) -
Published as c.863dupA
ISCN -
DB-ID USP9X_000005 See all 197 reported entries
Variant remarks -
Reference PubMed: Corton-2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-09-03 05:21:17 +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     

P-domain     
CHM NM_000390.2 +/. 7 c.? r.(?) p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383009 DNA SEQ-NG blood WES CHM 1 LOVD


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