Variant #0000615145 (NC_000014.8:g.94849325C>T, NM_001127701.1:c.250G>A (SERPINA1))
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94849325C>T |
DNA change (hg38) |
g.94382988C>T |
Published as |
SERPINA1(NM_001127701.1):c.250G>A (p.A84T) |
ISCN |
- |
DB-ID |
SERPINA1_000037 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) |
0.0003 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-12-04 15:24:38 +01:00 (CET) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
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