Variant #0000013615 (NC_000016.9:g.88842953G>A, NC_000016.9(NM_001142864.2):c.64+8356C>T (PIEZO1))
Individual ID |
00000209 |
Chromosome |
16 |
Allele |
Both (homozygous) |
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.88842953G>A |
DNA change (hg38) |
g.88776545G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PIEZO1_000001 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yu Sun |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Ivo F.A.C. Fokkema |
Date created |
2012-09-13 12:10:46 +02:00 (CEST) |
Date last edited |
2015-09-11 19:05:28 +02:00 (CEST) |

Variant on transcripts
Screenings
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