Variant #0000079605 (NC_000004.11:g.71552_3375637del, NM_002111.6:c.-3005001_*133851del (HTT))
| Individual ID |
00050680 |
| Chromosome |
4 |
| Allele |
Unknown |
| 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.71552_3375637del |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
IDUA_000000 |
| Variant remarks |
decreased gene dosage |
| Reference |
PubMed: DDDS 2015, Journal: DDDS 2015 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| 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 |
2015-09-27 16:16:40 +02:00 (CEST) |
| Date last edited |
2022-08-13 17:16:50 +02:00 (CEST) |

Variant on transcripts
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