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| Variant ID | 998 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047091T>C |
| Variant | c.229T>C |
| Variant Start Position | 229 |
| Location | Exon 3 |
| Amino Acid Change | p.Cys77Arg |
| ACMG Call | nan |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 34141703, 27840894 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | short stature, genu varum, teeth falling out |
| ACMG Categories | pm1, pm2, pp1, pp3, ppc, ppc_het |
| ACMG Explanations | pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, ppc_het, pp1 |
| No Contrary Evidence Found | True |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | False |
| Literature Alleles | X-22065209-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22065209-T-C |
| Other Alleles | X-22065209-TGT-CGG X-22065209-TGT-CGC X-22065209-TGT-CGA X-22065209-TGT-AGA X-22065209-TGT-AGG |
| Note | nan |
| Warnings | - |