Variant #0000729903 (NC_000019.9:g.11353957_11353960del, NM_020812.3:c.1360_1363del (DOCK6))
Individual ID |
00331402 |
Chromosome |
19 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.11353957_11353960del |
DNA change (hg38) |
g.11243281_11243284del |
Published as |
NM_020812.2:c.1362_1365delAACT:p.(Thr455Serfs*24) |
ISCN |
- |
DB-ID |
DOCK6_000001 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Maddirevula 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-02-11 15:29:38 +01:00 (CET) |
Date last edited |
2021-02-11 15:34:06 +01:00 (CET) |

Variant on transcripts
Screenings
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