Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 732 |
---|---|
Genomic Coordinate (GRCh38) | g.22245340G>T |
Variant | c.2078G>T |
Variant Start Position | 2078 |
Location | Exon 21 |
Amino Acid Change | p.Cys693Phe |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 24926462, 23079138, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | ps2, pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22263457 ref:G alt:T was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp3, ppc, ps2 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22263457-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22263457-G-T |
Other Alleles | X-22263457-GC-TT |
Note | nan |
Warnings | - |