Variant #0000435082 (NC_000001.10:g.116275527del, NM_001232.3:c.603del (CASQ2))
| Individual ID |
00204637 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.116275527del |
| DNA change (hg38) |
g.115732906del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CASQ2_000006 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Joel Lunardi |
| Database submission license |
No license selected |
| Created by |
Joel Lunardi |
| Date created |
2011-04-20 16:39:25 +02:00 (CEST) |
| Date last edited |
2020-06-04 19:11:33 +02:00 (CEST) |

Variant on transcripts
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