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Variant ID | 106 |
---|---|
Genomic Coordinate (GRCh38) | g.22047166G>A |
Variant | c.304G>A |
Variant Start Position | 304 |
Location | Exon 3 |
Amino Acid Change | p.Gly102Arg |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 29901142, 34141703, 27840894, 34806794 |
Article Count | 4 |
Times Observed | 11-20 |
Clinical Phenotype | bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, pectus carinatum, abnormal bone development, dental abnormalities |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | - |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |