Variant #0000052120 (NC_000023.10:g.153599258A>T, FLNA(NM_001110556.1):c.356T>A)

Individual ID 00028839
Chromosome X
Allele Paternal (inferred)
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.153599258A>T
DNA change (hg38) g.154370890A>T
Published as -
ISCN -
DB-ID FLNA_000058
Variant remarks not in 150 control chromosomes
Reference PubMed: Sole 2009
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/. 2 c.356T>A r.(?) p.(Ile119Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028850 DNA DHPLC - - FLNA 1 Yu Sun