Variant #0000001530 (NC_000004.11:g.178363496C>A, AGA(NM_000027.3):c.34G>T)
Chromosome |
4 |
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.178363496C>A |
DNA change (hg38) |
g.177442342C>A |
Published as |
c.34G>T |
ISCN |
- |
DB-ID |
AGA_000012 See all 2 reported entries |
Variant remarks |
1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear |
Reference |
PubMed: Saarela et al. 2001 |
ClinVar ID |
- |
dbSNP ID |
rs74626221 |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
0.01434 View details |
Owner |
Anne Polvi |

Variant on transcripts
|
|