Genomic variant #0000000489
Individual ID |
00000033 |
Chromosome |
14 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94847415A>G |
DNA change (hg38) |
g.94381078A>G |
Published as |
- |
ISCN |
- |
DB-ID |
SERPINA1_000002 See all 49 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
0.32316 View details |
Owner |
Gerard C.P. Schaafsma |
Variant on transcripts
Screenings
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