Variant #0000077897 (NC_000014.8:g.94849201C>T, NM_001127701.1:c.374G>A (SERPINA1))
Individual ID |
00049107 |
Chromosome |
14 |
Allele |
Parent #1 |
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.94849201C>T |
DNA change (hg38) |
g.94382864C>T |
Published as |
g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun |
ISCN |
- |
DB-ID |
SERPINA1_000003 See all 35 reported entries |
Variant remarks |
- |
Reference |
PubMed: Weidinger 1985 |
ClinVar ID |
- |
dbSNP ID |
rs709932 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.16021 View details |
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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