Variant #0000051959 (NC_000023.10:g.153596109G>C, FLNA(NM_001110556.1):c.623-3C>G)

Individual ID 00028678
Chromosome X
Allele Parent #1
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.153596109G>C
DNA change (hg38) g.154367741G>C
Published as IVS3-3C>G
ISCN -
DB-ID FLNA_000009
Variant remarks de novo, in patient
Reference PubMed: Fox 1998, OMIM:var0003
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 Yu Sun
Database submission license No license selected
Created by Yu Sun
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 +/. 3i c.623-3C>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028689 DNA SSCA - - FLNA 1 Yu Sun