Variant #0000081511 (NC_000009.11:g.(?_137970000)_(141020000_141040000)del, NM_024757.4:c.-37_*1174{0} (EHMT1))
| Individual ID |
00052123 |
| Chromosome |
9 |
| 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.(?_137970000)_(141020000_141040000)del |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
EHMT1_000000 See all 10 reported entries |
| Variant remarks |
3.1Mb deletion from OLFM1 to CACNA1B |
| Reference |
PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| 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 |
2015-10-16 12:36:06 +02:00 (CEST) |
| Date last edited |
2022-07-17 11:45:24 +02:00 (CEST) |

Variant on transcripts
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