Variant #0000355074 (NC_000012.11:g.66217407_66224664del, NC_000012.11(NM_003483.4):c.-1644_198+2797del (HMGA2))
| Individual ID |
00154495 |
| Chromosome |
12 |
| 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.66217407_66224664del |
| DNA change (hg38) |
g.65823627_65830884del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
HMGA2_000008 |
| Variant remarks |
DNA breakpoints were determined by breakpoint PCR |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Matias Wagner |
| Database submission license |
No license selected |
| Created by |
Matias Wagner |
| Date created |
2018-02-27 15:01:43 +01:00 (CET) |
| Date last edited |
2018-02-27 21:36:54 +01:00 (CET) |

Variant on transcripts
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