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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FOXP1 NM_032682.5 +/. 11i_21_ c.870-127_*4533{1}inv r.? p.?
FAM19A4 NM_182522.4 +/. _1_1i c.-493_-122-19936{1}inv r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000446067 DNA SEQ-NG - WES, WGS trio - 1 Johan den Dunnen


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