Variant #0000195745 (NC_000020.10:g.(40180000_40246978)_qterdelins[NC_000018.9:g.(53131369_53252510)_qter], NM_032221.4:c.-23_*2492{0} (CHD6))
Individual ID |
00112648 |
Chromosome |
20 |
Allele |
Parent #1 |
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.(40180000_40246978)_qterdelins[NC_000018.9:g.(53131369_53252510)_qter] |
DNA change (hg38) |
- |
Published as |
CHD6-TCF4 fusion |
ISCN |
t(18;20)(q21.1;q11.2) |
DB-ID |
CHD6_000003 |
Variant remarks |
fusion transcript CHD6 exon 1 spliced to TCF4 exon 4 |
Reference |
PubMed: Kalscheuer 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
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 |
2017-09-08 17:17:16 +02:00 (CEST) |
Date last edited |
2021-08-12 12:44:48 +02:00 (CEST) |
Variant on transcripts
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