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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