Variant #0000712983 (NC_000023.10:g.(?_85116185)_(85302566_?)del, NM_000390.2:c.-30_*3450{0} (CHM))

Individual ID 00327647
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_85116185)_(85302566_?)del
DNA change (hg38) g.(?_85861180)_(86047562_?)del
Published as max 3.3Mb deletion CHM, DACH2 and KLHL4
ISCN -
DB-ID CHM_000099 See all 22 reported entries
Variant remarks -
Reference PubMed: Zeitz 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Christina Zeitz
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-26 15:24:04 +01:00 (CET)
Date last edited 2021-04-12 21:40:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CHM NM_000390.2 +/. _1_15_ c.-30_*3450{0} r.0 p.0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328862 DNA MLPA;SEQ - - CHM 1 Christina Zeitz


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