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Variant ID | 652 |
---|---|
Genomic Coordinate (GRCh38) | g.22226479_22226481del |
Variant | c.1936_1938del |
Variant Start Position | 1936 |
Location | Exon 19 |
Amino Acid Change | p.Asp646del |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Deletion |
Variant Type | Small deletion |
PMID | 24926462, 23079138, 21902834, 34806794 |
Article Count | 4 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
ACMG Categories | pm2, pm4, ppc |
ACMG Explanations | pm2: chrX:22244594 ref:CTGA alt:C was not found in gnomAD exomes or genomes. pm4: This variant causes an in-frame length change and is not in a repeat region. |
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-22244594-CTGA-C |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |