Variant #0000021690 (NC_000024.9:g.(14440128_14607475)_(15154862_15370586)del)

Individual ID 00003243
Chromosome Y
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(14440128_14607475)_(15154862_15370586)del
DNA change (hg38) -
Published as AZFa deletion
ISCN -
DB-ID chrY_000087
Variant remarks AZFa deletion (sY83+, sY86_494CENdel, 494-146K+); undeleted father or brother
Reference PubMed: Foresta 2000
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 1/41 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-11-03 11:44:46 +01:00 (CET)
Date last edited 2013-11-03 13:34:09 +01:00 (CET)
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Variant on transcripts

Stop! No variants on transcripts found!



Screenings


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Owner     
0000003160 DNA PCR - - - 1 Johan den Dunnen


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