Variant #0000663697 (NC_000022.10:g.21341824del, NM_006767.3:c.352del (LZTR1))
| Individual ID |
00299689 |
| Chromosome |
22 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.21341824del |
| DNA change (hg38) |
g.20987535del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
LZTR1_000149 |
| Variant remarks |
ACMG grading: PVS1,PM2 schwannomatosis at age 66y |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2020-04-20 10:25:01 +02:00 (CEST) |
| Date last edited |
2020-07-17 11:10:35 +02:00 (CEST) |

Variant on transcripts
Screenings
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