Variant #0000786726 (NC_000006.11:g.135778795delinsTATTATTTA, NM_001134831.1:c.988delinsTAAATAATA (AHI1))
| Individual ID |
00374181 |
| Chromosome |
6 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135778795delinsTATTATTTA |
| DNA change (hg38) |
g.135457657delinsTATTATTTA |
| Published as |
- |
| ISCN |
- |
| DB-ID |
AHI1_000175 |
| Variant remarks |
- |
| Reference |
PubMed: Ganapathy 2019 |
| ClinVar ID |
- |
| dbSNP ID |
rs777241163 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-05-24 20:06:48 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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