Variant #0000972020 (NC_000005.9:g.127450346A>G, NM_001046.2:c.1021A>G (SLC12A2))
| Individual ID |
00448507 |
| Chromosome |
5 |
| Allele |
Unknown |
| 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.127450346A>G |
| DNA change (hg38) |
g.128114654A>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SLC12A2_000016 See all 2 reported entries |
| Variant remarks |
ACMG PM2, PP3 |
| Reference |
PubMed: Khan 2024, Journal: Khan 2024 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
| Owner |
Hina Khan |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Hina Khan |
| Date created |
2024-03-18 08:48:00 +01:00 (CET) |
| Date last edited |
2025-10-16 10:18:10 +02:00 (CEST) |

Variant on transcripts
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