Variant #0000454600 (NC_000009.11:g.[NC_000010.10:(97000001_99300000)_qter]delinspter_(4600001_9000000)inv)

Individual ID 00218598
Chromosome 9
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.[NC_000010.10:(97000001_99300000)_qter]delinspter_(4600001_9000000)inv
DNA change (hg38) -
Published as -
ISCN 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)
DB-ID chr9_004322
Variant remarks -
Reference PubMed: Zigman 1997
ClinVar ID -
dbSNP ID -
Origin DUPLICATE record
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 2019-01-30 16:14:39 +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


AscendingScreening ID     

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Owner     
0000219668 DNA microscope - screening BMPR1A 4 Karl Heinimann


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