Variant #0000927233 (NC_000023.10:g.100652876_100652878del, NM_000169.2:c.1212_1214del (GLA))
Chromosome |
X |
Allele |
Unknown |
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.100652876_100652878del |
DNA change (hg38) |
- |
Published as |
GLA(NM_000169.3):c.1212_1214delAAG (p.R404del) |
ISCN |
- |
DB-ID |
GLA_000428 See all 3 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |
Date created |
2023-04-16 21:50:28 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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