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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