Variant #0001021336 (NC_000008.10:g.(139255312_139263083)_(140999045_141034033)del, NC_000008.10(NM_001160372.1):c.(2699+1_2700-1)_(*1480221_*1487992)del (TRAPPC9))
Individual ID |
00460329 |
Chromosome |
8 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(139255312_139263083)_(140999045_141034033)del |
DNA change (hg38) |
g.(138243069_138250840)_(139988837_140023936)del |
Published as |
- |
ISCN |
- |
DB-ID |
TRAPPC9_000078 |
Variant remarks |
1.7Mb deletion (8q24.23-q24.3) encompassing last 5 exons of TRAPPC9, KCNK9, COL22A1, first 6 exons of FAM135B |
Reference |
PubMed: Uctepe 2023 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Eyyup Uctepe |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2025-01-23 13:00:03 +01:00 (CET) |
Date last edited |
2025-01-23 13:04:40 +01:00 (CET) |

Variant on transcripts
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