Variant #0000164562 (NC_000008.10:g.(159900000_168500000)_qterdelins[NC_000005.9:(176563032_176618884)_qter])

Individual ID 00101356
Chromosome 8
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.(159900000_168500000)_qterdelins[NC_000005.9:(176563032_176618884)_qter]
DNA change (hg38) -
Published as -
ISCN 46,XX,t(5;8)(q35;q24.1)
DB-ID chr8_000295
Variant remarks translocation
Reference PubMed: Kurotaki 2002
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-03-24 12:55:35 +01:00 (CET)
Date last edited 2020-05-12 19:21:26 +02:00 (CEST)




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


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Owner     
0000101804 DNA FISH - - NSD1 4 Johan den Dunnen


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