Variant #0000954325 (NC_000003.11:g.68954397_71064930inv, NM_032682.5:c.870-127_*4533{1}inv (FOXP1))
Individual ID |
00444499 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68954397_71064930inv |
DNA change (hg38) |
g.68905246_71015779inv |
Published as |
NM_001244813.1:c.570-127_*2054002inv |
ISCN |
- |
DB-ID |
FOXP1_000096 |
Variant remarks |
ACMG PVS1, PS2, PM2; copy neutral inversion not detected by WES incl. FOXP1, KBTBD8, SUCLG2, FAM19A1, FAM19A4 |
Reference |
PubMed: Riquin 2023 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-12-24 18:16:19 +01:00 (CET) |
Date last edited |
2023-12-26 17:23:59 +01:00 (CET) |

Variant on transcripts
Screenings
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