Variant #0000652837 (NC_000023.10:g.153596246G>A, FLNA(NM_001110556.1):c.586C>T)

Individual ID 00294980
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153596246G>A
DNA change (hg38) g.154367878G>A
Published as -
ISCN -
DB-ID FLNA_000074 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs137853317
Origin Germline
Segregation -
Frequency 6/2764 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLNA NM_001110556.1 ?/. - c.586C>T r.(?) p.(Arg196Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296148 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq