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| Variant ID | 640 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22221748G>A |
| Variant | c.1899+5G>A |
| Variant Start Position | 1899 |
| Location | Intron 18 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Intronic |
| Variant Type | Splicing |
| PMID | 31102713, 19219621, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | ps3, pm2, ppc |
| ACMG Explanations | pm2: chrX:22239865 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, ps3, pvs1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 31102713: fx/exon skipping 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22239865-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |