Variant #0000001538 (NC_000004.11:g.178355588C>G, AGA(NM_000027.3):c.754G>C)
Chromosome |
4 |
Allele |
Both (homozygous) |
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.178355588C>G |
DNA change (hg38) |
g.177434434C>G |
Published as |
- |
ISCN |
- |
DB-ID |
AGA_000020 |
Variant remarks |
1 Italian AGU patient (hom) |
Reference |
PubMed: Saarela et al. 2001 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Anne Polvi |

Variant on transcripts
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