Variant #0000235426 (NC_000017.10:g.40690709C>G, NM_000263.3:c.700C>G (NAGLU))
| Individual ID |
00143764 |
| Chromosome |
17 |
| Allele |
Both (homozygous) |
| 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.40690709C>G |
| DNA change (hg38) |
g.42538691C>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
NAGLU_000003 See all 2 reported entries |
| Variant remarks |
another variant affecting amino acid R234 is already published as pathogenic: c.700C>T, p.(R234C) |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Dr. Alexandra Wey-Fabrizius |
| Database submission license |
No license selected |
| Created by |
Dr. Alexandra Wey-Fabrizius |
| Date created |
2017-12-05 10:54:32 +01:00 (CET) |
| Date last edited |
2017-12-05 18:14:52 +01:00 (CET) |

Variant on transcripts
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