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Variant ID | 287 |
---|---|
Genomic Coordinate (GRCh38) | g.22099014 |
Variant | c.? |
Variant Start Position | 942 |
Location | Exon 9 |
Amino Acid Change | p.Trp314* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 11502829, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pvs1, pm1, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22117132 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22117131 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22117132-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22117132-G-A X-22117131-G-A |
Other Alleles | X-22117131-GG-AA |
Note | cDNA is not provided |
Warnings | - |