Variant #0000016444 (NC_000006.11:g.74320243_74320244del, NM_012434.4:c.1138_1139del (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.74320243_74320244del |
DNA change (hg38) |
g.73610520_73610521del |
Published as |
1138–1139del: Frameshift, 7 novel amino acids, premature stop |
ISCN |
- |
DB-ID |
SLC17A5_000014 See all 2 reported entries |
Variant remarks |
1 British SD family (com-het) |
Reference |
PubMed: Aula et al. 2000 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 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 |
2020-06-19 15:00:09 +02:00 (CEST) |

Variant on transcripts
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