Variant #0000007927 (NC_000023.10:g.152018832T>G, NM_015922.2:c.132T>G (NSDHL))
Individual ID |
00000208 |
Chromosome |
X |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.152018832T>G |
DNA change (hg38) |
g.152850288T>G |
Published as |
- |
ISCN |
- |
DB-ID |
NSDHL_000001 See all 5 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.88167 View details |
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 12:05:04 +02:00 (CEST) |
Date last edited |
2020-07-21 13:09:06 +02:00 (CEST) |

Variant on transcripts
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