Variant #0000712983 (NC_000023.10:g.(?_85116185)_(85302566_?)del, NM_000390.2:c.-30_*3450{0} (CHM))
Individual ID |
00327647 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_85116185)_(85302566_?)del |
DNA change (hg38) |
g.(?_85861180)_(86047562_?)del |
Published as |
max 3.3Mb deletion CHM, DACH2 and KLHL4 |
ISCN |
- |
DB-ID |
CHM_000099 See all 22 reported entries |
Variant remarks |
- |
Reference |
PubMed: Zeitz 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Christina Zeitz |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-01-26 15:24:04 +01:00 (CET) |
Date last edited |
2021-04-12 21:40:14 +02:00 (CEST) |

Variant on transcripts
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