Variant #0000071828 (NC_000005.9:g.131705698G>A, NM_003060.3:c.34G>A (SLC22A5))
| Individual ID |
00043781 |
| Chromosome |
5 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.131705698G>A |
| DNA change (hg38) |
g.132370006G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SLC22A5_000101 |
| Variant remarks |
- |
| Reference |
PubMed: Hertz 2015, Journal: Hertz 2015 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00073 View details |
| Owner |
Christin Hertz |
| Database submission license |
No license selected |
| Created by |
Christin Hertz |
| Date created |
2015-06-19 14:25:11 +02:00 (CEST) |
| Date last edited |
2016-04-29 15:12:43 +02:00 (CEST) |

Variant on transcripts
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