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 International |
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
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