Variant #0000154062 (NC_000023.10:g.(153592534_153592893)_(153599730_153607844)del, FLNA(NM_001110556.1):c.(-5087_-116-1)_(2022+1_2137-1)del)

Individual ID 00095101
Chromosome X
Allele Unknown
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.(153592534_153592893)_(153599730_153607844)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLNA_000118
Variant remarks de novo deletion FLNA exon 2, 5, 13 with exon 15 and EMD gene normal
Reference PubMed: Reinstein 2013, Journal: Reinstein 2013
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 +/. _1i_13i_ c.(-5087_-116-1)_(2022+1_2137-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095499 DNA SEQ;SEQ-NG - - EMD, FLNA 1 Johan den Dunnen