Variant #0000673811 (NC_000023.10:g.153596324G>A, FLNA(NM_001110556.1):c.508C>T)

Individual ID 00306103
Chromosome X
Allele Maternal (confirmed)
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.153596324G>A
DNA change (hg38) g.154367956G>A
Published as -
ISCN -
DB-ID FLNA_000449
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Laura Tanner
Database submission license No license selected
Created by Laura Tanner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 +/. 3 c.508C>T r.(?) p.(Gln170*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307232 DNA SEQ - - FLNA 1 Laura Tanner