Variant #0000949482 (NC_000010.10:g.97969596G>A, NM_013314.3:c.744C>T (BLNK))
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.97969596G>A |
DNA change (hg38) |
- |
Published as |
BLNK(NM_013314.3):c.744C>T (p.A248=) |
ISCN |
- |
DB-ID |
BLNK_000012 See all 2 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) |
0.00046 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2023-11-27 17:35:39 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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