Variant #0000224487 (NC_000023.10:g.153599376G>C, FLNA(NM_001110556.1):c.238C>G)

Individual ID 00133647
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153599376G>C
DNA change (hg38) g.154371008G>C
Published as -
ISCN -
DB-ID FLNA_000123 See all 2 reported entries
Variant remarks -
Reference -
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 Elyssa Cannaerts
Database submission license No license selected
Created by Elyssa Cannaerts
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 +?/. 2 c.238C>G r.(?) p.(Leu80Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134485 DNA SEQ-NG-I - - FLNA 1 Elyssa Cannaerts