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Variant ID | 131 |
---|---|
Genomic Coordinate (GRCh38) | g.22076435C>T |
Variant | c.397C>T |
Variant Start Position | 397 |
Location | Exon 4 |
Amino Acid Change | p.Gln133* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 21050253, 18057152, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | Gait Abnormalities, Nervous System, Lower Limb Deformities |
ACMG Categories | pvs1, pm2, pm6, ppc, ppc_het |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22094553 ref:C alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ppc_het, pm6 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22094553-C-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22094553-C-T |
Other Alleles | X-22094553-CAG-TGA X-22094553-CAG-TAA |
Note | nan |
Warnings | - |