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Variant ID | 635 |
---|---|
Genomic Coordinate (GRCh38) | g.22221725 |
Variant | c.? |
Variant Start Position | 1881 |
Location | Exon 18 |
Amino Acid Change | p.Trp627* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 19242361, 27221261, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis |
ACMG Categories | pvs1, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239841 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22239842 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1, ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22239842-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22239841-G-A X-22239842-G-A |
Other Alleles | X-22239841-GG-AA |
Note | cDNA is not provided |
Warnings | - |