Variant #0000842146 (NC_000004.11:g.123900482C>T, NM_145207.2:c.1810C>T (SPATA5))
Individual ID |
00404729 |
Chromosome |
4 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.123900482C>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
SPATA5_000037 |
Variant remarks |
ACMG: PVS1, PM3, PM2_SUP |
Reference |
- |
ClinVar ID |
VCV001074946.1 |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2022-03-07 14:04:19 +01:00 (CET) |
Date last edited |
2022-03-07 15:36:23 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|