Variant #0000001496 (NC_000004.11:g.178363422_178363428del, AGA(NM_000027.3):c.102_108del)
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.178363422_178363428del |
DNA change (hg38) |
g.177442268_177442274del |
Published as |
7-bp deletion (nt 102-108) |
ISCN |
- |
DB-ID |
AGA_000003 |
Variant remarks |
1 English AGU patient (het) + 2 English sibs (het) with AGU |
Reference |
PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Anne Polvi |

Variant on transcripts
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