Variant #0000404722 (NC_000023.10:g.(?_153587341)_(153626893_?)dup, FLNA(NM_001110556.1):c.(?_-24136)_(4474+11_?)dup)

Individual ID 00180183
Chromosome X
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.(?_153587341)_(153626893_?)dup
DNA change (hg38) -
Published as hg38
ISCN Xq28(153,587,341-153,626,893)x3
DB-ID FLNA_000305
Variant remarks -
Reference PubMed: TumienÄ— 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 +/. _1_26i c.(?_-24136)_(4474+11_?)dup r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181086 DNA SEQ-NG - WES FLNA 2 Johan den Dunnen