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Variant ID | 812 |
---|---|
Genomic Coordinate (GRCh38) | g.22248184A>G |
Variant | c.*231A>G |
Variant Start Position | 2491 |
Location | 3' UTR |
Amino Acid Change | p.? |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Untranslated region |
Variant Type | SNV |
PMID | 31242375, 31910300, 29417983, 31242373, 28982589, 25042154, 31242372, 18625346, 31242376, 31242374, 34806794 |
Article Count | 11 |
Times Observed | 30+ |
Clinical Phenotype | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities |
ACMG Categories | ps4m, pm2 |
ACMG Explanations | pm2: chrX:22266301 ref:A alt:G was not found in gnomAD exomes or genomes. chrX:22266216 ref:A alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic/Likely pathogenic |
Categories In Literature | ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22266301-A-G X-22266216-A-G |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |