Variant #0000602983 (NC_000004.11:g.111539779G>T, NM_153426.2:c.456C>A (PITX2))
| Individual ID |
00269114 |
| Chromosome |
4 |
| 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.111539779G>T |
| DNA change (hg38) |
g.110618623G>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PITX2_000049 |
| Variant remarks |
ACMG: PVS1,PM2 |
| 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 |
2019-11-06 14:42:09 +01:00 (CET) |
| Date last edited |
2020-03-28 07:10:23 +01:00 (CET) |

Variant on transcripts
Screenings
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