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Variant ID | 227 |
---|---|
Genomic Coordinate (GRCh38) | g.22093985T>G |
Variant | c.735T>G |
Variant Start Position | 735 |
Location | Exon 7 |
Amino Acid Change | p.Tyr245* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 21553362, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension |
ACMG Categories | pvs1, pm1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. 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 |
No Contrary Evidence Found | YES |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22112103-T-G |
GnomAD Alleles | - |
DBNSFP Alleles | X-22112103-T-G X-22112103-T-A |
Other Alleles | X-22112102-AT-GA |
Note | nan |
Warnings | - |