Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:108679363
- GRCh38:
- Chr1:108136741
| SLC25A24 | P430L, P449L | Fontaine progeroid syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:108742760
- GRCh38:
- Chr1:108200138
| LOC112577470, SLC25A24 | M1L | Fontaine progeroid syndrome | Uncertain significance
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:108703890
- GRCh38:
- Chr1:108161268
| SLC25A24 | V123M, V142M | Fontaine progeroid syndrome | Uncertain significance
(Mar 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:108724518
- GRCh38:
- Chr1:108181896
| SLC25A24 | | Fontaine progeroid syndrome, not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:108728484
- GRCh38:
- Chr1:108185862
| SLC25A24 | | Fontaine progeroid syndrome, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:108697604-108697615
- GRCh38:
- Chr1:108154982-108154993
| SLC25A24 | | Fontaine progeroid syndrome | Uncertain significance
(Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:108700103
- GRCh38:
- Chr1:108157481
| SLC25A24 | R198H, R217H | Fontaine progeroid syndrome, not provided | Pathogenic
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:108700104
- GRCh38:
- Chr1:108157482
| SLC25A24 | R198C, R217C | Fontaine progeroid syndrome | Pathogenic
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |