Variant #0000400755 (NC_000010.10:g.76784949_76784952del, NM_012330.3:c.3606_3609del (KAT6B))
Individual ID |
00176989 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76784949_76784952del |
DNA change (hg38) |
g.75025191_75025194del |
Published as |
MC_000010.11: c.3603_3606del, p.Arg1201fs |
ISCN |
- |
DB-ID |
KAT6B_000097 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Okano 2018] |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Philippe Campeau |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Philippe Campeau |
Date created |
2018-08-14 21:19:25 +02:00 (CEST) |
Date last edited |
2020-07-27 12:46:27 +02:00 (CEST) |

Variant on transcripts
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