Variant #0000451299 (NC_000023.10:g.(153564000_153607597)_(153609883_153624000)inv, FLNA(NM_001110556.1):c.(?_-249)_(*317_?)inv)

Individual ID 00216005
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.(153564000_153607597)_(153609883_153624000)inv
DNA change (hg38) -
Published as -
ISCN -
DB-ID EMD_000089
Variant remarks 48kb inversion FLNA/EMD
Reference PubMed: Small 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 19/106 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
EMD NM_000117.2 -/. 1 c.(?_-248)_(*326_?)inv r.(=) p.(=)
FLNA NM_001110556.1 -/. _1_48_ c.(?_-249)_(*317_?)inv r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000217074 DNA Southern - - EMD 1 Johan den Dunnen