Variant #0000016972 (NC_000004.11:g.178360778G>A, AGA(NM_000027.3):c.346C>T)
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.178360778G>A |
DNA change (hg38) |
g.177439624G>A |
Published as |
- |
ISCN |
- |
DB-ID |
AGA_000031 |
Variant remarks |
3 Turkish siblings (hom) with AGU |
Reference |
PubMed: Opladen et al. 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0 View details |
Owner |
Anne Polvi |

Variant on transcripts
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