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| Variant ID | 255 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22094105dup |
| Variant | c.849+6_849+7insT |
| Variant Start Position | 849 |
| Location | Intron 7 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Intronic |
| Variant Type | Small insertion |
| PMID | 19219621, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | ps3, pm2, pp1 |
| ACMG Explanations | pm2: chrX:22113485 ref:G alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 11502821: assay/reverse transcription pcr 11502821: flg/partial loss of function 11502821: fx/activation of cryptic splice site 11502821: model/patient rna sample |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22113485-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |