Variant #0000451299 (NC_000023.10:g.(153564000_153607597)_(153609883_153624000)inv, NM_001110556.1:c.(?_-249)_(*317_?)inv (FLNA))
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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2004-12-07 22:14:45 +01:00 (CET) |
Date last edited |
2019-01-22 12:49:06 +01:00 (CET) |

Variant on transcripts
Screenings
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