Variant #0000077871 (NC_000014.8:g.94849228A>T, NM_001127701.1:c.347T>A (SERPINA1))
Individual ID |
00049089 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94849228A>T |
DNA change (hg38) |
g.94382891A>T |
Published as |
g.7662T>A | I116N / Name: QO-Lunwigshafen |
ISCN |
- |
DB-ID |
SERPINA1_000031 |
Variant remarks |
- |
Reference |
PubMed: Fraizer 1990 |
ClinVar ID |
- |
dbSNP ID |
rs28931572 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
XhoII- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
George Patrinos |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2015-09-08 16:06:25 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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