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Variant ID | 375 |
---|---|
Genomic Coordinate (GRCh38) | g.22114501G>T |
Variant | c.1217G>T |
Variant Start Position | 1217 |
Location | Exon 11 |
Amino Acid Change | p.Cys406Phe |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 29460029, 29505567, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Lower Limb Deformities |
ACMG Categories | ps2, pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22132619 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 | ppc, ps2, pp3 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22132619-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22132619-G-T |
Other Alleles | X-22132619-GT-TC |
Note | nan |
Warnings | - |