Variant #0000052112 (NC_000023.10:g.153599548_153599549del, FLNA(NM_001110556.1):c.67_68del)

Individual ID 00028831
Chromosome X
Allele Maternal (confirmed)
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.153599548_153599549del
DNA change (hg38) g.154371180_154371181del
Published as 65_66delAC
ISCN -
DB-ID FLNA_000053 See all 7 reported entries
Variant remarks absent in 164 control X chromosomes
Reference PubMed: Gargiulo 2007, OMIM:var0025
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.67_68del r.(?) p.(Thr23Alafs*82)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028842 DNA SEQ - - FLNA 1 Yu Sun