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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