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| Variant ID | 156 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22076476T>A |
| Variant | c.436+2T>A |
| Variant Start Position | 436 |
| Location | Intron 4 |
| Amino Acid Change | p.? |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
| Variant Type | Splicing |
| PMID | 10439971, 31102713, 16636593, 34806794 |
| Article Count | 4 |
| Times Observed | 3-5 |
| Clinical Phenotype | Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Tooth abscesses and/or excessive dental caries |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | - |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |