Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 726 |
---|---|
Genomic Coordinate (GRCh38) | g.22245332G>T |
Variant | c.2071-1G>T |
Variant Start Position | 2071 |
Location | Intron 20 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 24229582, 22913777, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22263449 ref:G alt:T was not found in gnomAD exomes or genomes. chrX:22265967 ref:G alt:T was not found in gnomAD exomes or genomes. |
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 | No |
Literature Alleles | X-22263449-G-T X-22265967-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22263449-G-T X-22265967-G-T |
Other Alleles | - |
Note | nan |
Warnings | - |