Variant #0000016432 (NC_000006.11:g.74354306G>A, NM_012434.4:c.115C>T (SLC17A5))
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.74354306G>A |
DNA change (hg38) |
g.73644583G>A |
Published as |
R39C, in loop before TM domain 1 |
ISCN |
- |
DB-ID |
SLC17A5_000002 See all 4 reported entries |
Variant remarks |
Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients. |
Reference |
PubMed: Verheijen et al. 1999, PubMed: Aula et al. 2000, PubMed: Varho et al. 2002, PubMed: Linnakivi et al. 2003, PubMed: Martin et al. 2003, PubMed: Strauss et al. 2005 |
ClinVar ID |
- |
dbSNP ID |
rs80338794 |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
0/100 FIN CON |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00083 View details |
Owner |
Anne Polvi |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Anne Polvi |
Date created |
2012-11-15 14:02:15 +01:00 (CET) |
Date last edited |
2017-05-05 19:04:32 +02:00 (CEST) |

Variant on transcripts
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