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| Variant ID | 495 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22190458C>T |
| Variant | c.1601C>T |
| Variant Start Position | 1601 |
| Location | Exon 15 |
| Amino Acid Change | p.Pro534Leu |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 10439971, 9199930, 23813354, 23079138, 22101457, 29460029, 9768674, 15057978, 16055933, 9097956, 25894638, 22261628, 18162710, 30599486, 22713460, 33639975, 32329911, 24660072, 11502829, 30682568, 22695891, 24926462, 25042154, 20688626, 32104046, 29505567, 19219621, 29707405, 21050253, 16636593, 17467977, 10874297, 10894185, 21604088, 32253725, 27840894, 33783172, 34141703, 34806794 |
| Article Count | 39 |
| Times Observed | 30+ |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Short Stature, Lower limb deformities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, Thyroid, teeth falling out, genu varum, stunted growth, short stature |
| ACMG Categories | ps2, ps4m, pm2, pp1, pp3, ppc |
| ACMG Explanations | pm2: chrX:22208575 ref:C alt:T was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ps4m, ppc, pp3, pp1, ps2 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22208575-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22208575-C-T |
| Other Alleles | X-22208575-CG-TA X-22208574-CC-TT X-22208575-CG-TC X-22208574-CCG-TTA X-22208575-CG-TT |
| Note | nan |
| Warnings | - |