Variant #0000824696 (NC_000006.11:g.135784291dup, NM_001134831.1:c.910dup (AHI1))
| Individual ID |
00392627 |
| Chromosome |
6 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135784291dup |
| DNA change (hg38) |
g.135463153dup |
| Published as |
AHI1 c.910dupA, p.T304fs |
| ISCN |
- |
| DB-ID |
AHI1_000171 See all 15 reported entries |
| Variant remarks |
marked as causative, heterozygous |
| Reference |
PubMed: Ma 2021 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-11-23 15:06:01 +01:00 (CET) |
| Date last edited |
2021-11-23 15:06:39 +01:00 (CET) |

Variant on transcripts
Screenings
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