Variant #0001044509 (NC_000023.10:g.74334589C>T, NM_004299.4:c.249G>A (ABCB7))
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.74334589C>T |
DNA change (hg38) |
- |
Published as |
ABCB7(NM_001271696.3):c.246G>A (p.(Lys82=)) |
ISCN |
- |
DB-ID |
ABCB7_000036 |
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_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2025-05-05 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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