Variant #0000335931 (NC_000023.10:g.151821412G>A, GABRQ(NM_018558.2):c.1567G>A)
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.151821412G>A |
DNA change (hg38) |
g.152652949G>A |
Published as |
GABRQ(NM_018558.3):c.1567G>A (p.(Gly523Ser)) |
ISCN |
- |
DB-ID |
GABRQ_000022 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |

Variant on transcripts
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